SNP Links for Protein (Select 146229327) - SNP

Select item 14905655341.

rs1490565534 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:50625236 (GRCh38)
22:51063664 (GRCh37)
Canonical SPDI:: NC_000022.11:50625235:G:A
Gene:: ARSA (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50625236G>A, NC_000022.10:g.51063664G>A, NG_009260.2:g.7944C>T, NM_000487.6:c.1439C>T, NM_000487.5:c.1439C>T, NM_001085425.3:c.1439C>T, NM_001085425.2:c.1439C>T, NM_001085426.3:c.1439C>T, NM_001085426.2:c.1439C>T, NM_001085427.3:c.1439C>T, NM_001085427.2:c.1439C>T, NM_001085428.3:c.1181C>T, NM_001085428.2:c.1181C>T, NM_001362782.2:c.1181C>T, NM_001362782.1:c.1181C>T, XM_011530691.4:c.*172C>T, XM_011530691.3:c.*172C>T, XM_011530691.2:c.*172C>T, XM_011530691.1:c.*172C>T, XM_024452241.2:c.*172C>T, XM_024452241.1:c.*172C>T, XM_047441363.1:c.*172C>T, NP_000478.3:p.Ala480Val, NP_001078894.2:p.Ala480Val, NP_001078895.2:p.Ala480Val, NP_001078896.2:p.Ala480Val, NP_001078897.1:p.Ala394Val, NP_001349711.1:p.Ala394Val

Select item 14905206642.

rs1490520664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:50626032 (GRCh38)
22:51064460 (GRCh37)
Canonical SPDI:: NC_000022.11:50626031:G:A
Gene:: ARSA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50626032G>A, NC_000022.10:g.51064460G>A, NG_009260.2:g.7148C>T, NM_000487.6:c.1011C>T, NM_000487.5:c.1011C>T, NM_001085425.3:c.1011C>T, NM_001085425.2:c.1011C>T, NM_001085426.3:c.1011C>T, NM_001085426.2:c.1011C>T, NM_001085427.3:c.1011C>T, NM_001085427.2:c.1011C>T, NM_001085428.3:c.753C>T, NM_001085428.2:c.753C>T, NM_001362782.2:c.753C>T, NM_001362782.1:c.753C>T, XM_011530691.4:c.1011C>T, XM_011530691.3:c.1011C>T, XM_011530691.2:c.1011C>T, XM_011530691.1:c.1011C>T, XM_024452241.2:c.1011C>T, XM_024452241.1:c.1011C>T, XM_047441363.1:c.1011C>T

Select item 14902426173.

rs1490242617 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:50625975 (GRCh38)
22:51064403 (GRCh37)
Canonical SPDI:: NC_000022.11:50625974:A:G
Gene:: ARSA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
HGVS:: NC_000022.11:g.50625975A>G, NC_000022.10:g.51064403A>G, NG_009260.2:g.7205T>C, NM_000487.6:c.1068T>C, NM_000487.5:c.1068T>C, NM_001085425.3:c.1068T>C, NM_001085425.2:c.1068T>C, NM_001085426.3:c.1068T>C, NM_001085426.2:c.1068T>C, NM_001085427.3:c.1068T>C, NM_001085427.2:c.1068T>C, NM_001085428.3:c.810T>C, NM_001085428.2:c.810T>C, NM_001362782.2:c.810T>C, NM_001362782.1:c.810T>C, XM_011530691.4:c.1068T>C, XM_011530691.3:c.1068T>C, XM_011530691.2:c.1068T>C, XM_011530691.1:c.1068T>C, XM_024452241.2:c.1068T>C, XM_024452241.1:c.1068T>C, XM_047441363.1:c.1068T>C

Select item 14879998854.

rs1487999885 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:50625232 (GRCh38)
22:51063660 (GRCh37)
Canonical SPDI:: NC_000022.11:50625231:C:T
Gene:: ARSA (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50625232C>T, NC_000022.10:g.51063660C>T, NG_009260.2:g.7948G>A, NM_000487.6:c.1443G>A, NM_000487.5:c.1443G>A, NM_001085425.3:c.1443G>A, NM_001085425.2:c.1443G>A, NM_001085426.3:c.1443G>A, NM_001085426.2:c.1443G>A, NM_001085427.3:c.1443G>A, NM_001085427.2:c.1443G>A, NM_001085428.3:c.1185G>A, NM_001085428.2:c.1185G>A, NM_001362782.2:c.1185G>A, NM_001362782.1:c.1185G>A, XM_011530691.4:c.*176G>A, XM_011530691.3:c.*176G>A, XM_011530691.2:c.*176G>A, XM_011530691.1:c.*176G>A, XM_024452241.2:c.*176G>A, XM_024452241.1:c.*176G>A, XM_047441363.1:c.*176G>A

Select item 14837274225.

rs1483727422 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:50627008 (GRCh38)
22:51065436 (GRCh37)
Canonical SPDI:: NC_000022.11:50627007:G:A,NC_000022.11:50627007:G:C
Gene:: ARSA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.50627008G>A, NC_000022.11:g.50627008G>C, NC_000022.10:g.51065436G>A, NC_000022.10:g.51065436G>C, NG_009260.2:g.6172C>T, NG_009260.2:g.6172C>G, NM_000487.6:c.510C>T, NM_000487.6:c.510C>G, NM_000487.5:c.510C>T, NM_000487.5:c.510C>G, NM_001085425.3:c.510C>T, NM_001085425.3:c.510C>G, NM_001085425.2:c.510C>T, NM_001085425.2:c.510C>G, NM_001085426.3:c.510C>T, NM_001085426.3:c.510C>G, NM_001085426.2:c.510C>T, NM_001085426.2:c.510C>G, NM_001085427.3:c.510C>T, NM_001085427.3:c.510C>G, NM_001085427.2:c.510C>T, NM_001085427.2:c.510C>G, NM_001085428.3:c.252C>T, NM_001085428.3:c.252C>G, NM_001085428.2:c.252C>T, NM_001085428.2:c.252C>G, NM_001362782.2:c.252C>T, NM_001362782.2:c.252C>G, NM_001362782.1:c.252C>T, NM_001362782.1:c.252C>G, XM_011530691.4:c.510C>T, XM_011530691.4:c.510C>G, XM_011530691.3:c.510C>T, XM_011530691.3:c.510C>G, XM_011530691.2:c.510C>T, XM_011530691.2:c.510C>G, XM_011530691.1:c.510C>T, XM_011530691.1:c.510C>G, XM_024452241.2:c.510C>T, XM_024452241.2:c.510C>G, XM_024452241.1:c.510C>T, XM_024452241.1:c.510C>G, XM_047441363.1:c.510C>T, XM_047441363.1:c.510C>G, NP_000478.3:p.Cys170Trp, NP_001078894.2:p.Cys170Trp, NP_001078895.2:p.Cys170Trp, NP_001078896.2:p.Cys170Trp, NP_001078897.1:p.Cys84Trp, NP_001349711.1:p.Cys84Trp, XP_011528993.1:p.Cys170Trp, XP_024308009.1:p.Cys170Trp, XP_047297319.1:p.Cys170Trp

Select item 14808088846.

rs1480808884 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:50625987 (GRCh38)
22:51064415 (GRCh37)
Canonical SPDI:: NC_000022.11:50625986:A:G
Gene:: ARSA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50625987A>G, NC_000022.10:g.51064415A>G, NG_009260.2:g.7193T>C, NM_000487.6:c.1056T>C, NM_000487.5:c.1056T>C, NM_001085425.3:c.1056T>C, NM_001085425.2:c.1056T>C, NM_001085426.3:c.1056T>C, NM_001085426.2:c.1056T>C, NM_001085427.3:c.1056T>C, NM_001085427.2:c.1056T>C, NM_001085428.3:c.798T>C, NM_001085428.2:c.798T>C, NM_001362782.2:c.798T>C, NM_001362782.1:c.798T>C, XM_011530691.4:c.1056T>C, XM_011530691.3:c.1056T>C, XM_011530691.2:c.1056T>C, XM_011530691.1:c.1056T>C, XM_024452241.2:c.1056T>C, XM_024452241.1:c.1056T>C, XM_047441363.1:c.1056T>C

Select item 14807752427.

rs1480775242 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:50625192 (GRCh38)
22:51063620 (GRCh37)
Canonical SPDI:: NC_000022.11:50625191:A:G
Gene:: ARSA (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000032/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.50625192A>G, NC_000022.10:g.51063620A>G, NG_009260.2:g.7988T>C, NM_000487.6:c.1483T>C, NM_000487.5:c.1483T>C, NM_001085425.3:c.1483T>C, NM_001085425.2:c.1483T>C, NM_001085426.3:c.1483T>C, NM_001085426.2:c.1483T>C, NM_001085427.3:c.1483T>C, NM_001085427.2:c.1483T>C, NM_001085428.3:c.1225T>C, NM_001085428.2:c.1225T>C, NM_001362782.2:c.1225T>C, NM_001362782.1:c.1225T>C, XM_011530691.4:c.*216T>C, XM_011530691.3:c.*216T>C, XM_011530691.2:c.*216T>C, XM_011530691.1:c.*216T>C, XM_024452241.2:c.*216T>C, XM_024452241.1:c.*216T>C, XM_047441363.1:c.*216T>C, NP_000478.3:p.Cys495Arg, NP_001078894.2:p.Cys495Arg, NP_001078895.2:p.Cys495Arg, NP_001078896.2:p.Cys495Arg, NP_001078897.1:p.Cys409Arg, NP_001349711.1:p.Cys409Arg

Select item 14779781928.

rs1477978192 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:50625210 (GRCh38)
22:51063638 (GRCh37)
Canonical SPDI:: NC_000022.11:50625209:T:A
Gene:: ARSA (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.50625210T>A, NC_000022.10:g.51063638T>A, NG_009260.2:g.7970A>T, NM_000487.6:c.1465A>T, NM_000487.5:c.1465A>T, NM_001085425.3:c.1465A>T, NM_001085425.2:c.1465A>T, NM_001085426.3:c.1465A>T, NM_001085426.2:c.1465A>T, NM_001085427.3:c.1465A>T, NM_001085427.2:c.1465A>T, NM_001085428.3:c.1207A>T, NM_001085428.2:c.1207A>T, NM_001362782.2:c.1207A>T, NM_001362782.1:c.1207A>T, XM_011530691.4:c.*198A>T, XM_011530691.3:c.*198A>T, XM_011530691.2:c.*198A>T, XM_011530691.1:c.*198A>T, XM_024452241.2:c.*198A>T, XM_024452241.1:c.*198A>T, XM_047441363.1:c.*198A>T, NP_000478.3:p.Ile489Phe, NP_001078894.2:p.Ile489Phe, NP_001078895.2:p.Ile489Phe, NP_001078896.2:p.Ile489Phe, NP_001078897.1:p.Ile403Phe, NP_001349711.1:p.Ile403Phe

Select item 14779644599.

rs1477964459 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:50626707 (GRCh38)
22:51065135 (GRCh37)
Canonical SPDI:: NC_000022.11:50626706:G:A
Gene:: ARSA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.50626707G>A, NC_000022.10:g.51065135G>A, NG_009260.2:g.6473C>T, NM_000487.6:c.738C>T, NM_000487.5:c.738C>T, NM_001085425.3:c.738C>T, NM_001085425.2:c.738C>T, NM_001085426.3:c.738C>T, NM_001085426.2:c.738C>T, NM_001085427.3:c.738C>T, NM_001085427.2:c.738C>T, NM_001085428.3:c.480C>T, NM_001085428.2:c.480C>T, NM_001362782.2:c.480C>T, NM_001362782.1:c.480C>T, XM_011530691.4:c.738C>T, XM_011530691.3:c.738C>T, XM_011530691.2:c.738C>T, XM_011530691.1:c.738C>T, XM_024452241.2:c.738C>T, XM_024452241.1:c.738C>T, XM_047441363.1:c.738C>T

Select item 147326519910.

rs1473265199 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:50626156 (GRCh38)
22:51064584 (GRCh37)
Canonical SPDI:: NC_000022.11:50626155:G:A
Gene:: ARSA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0./0 (GnomAD)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50626156G>A, NC_000022.10:g.51064584G>A, NG_009260.2:g.7024C>T, NM_000487.6:c.977C>T, NM_000487.5:c.977C>T, NM_001085425.3:c.977C>T, NM_001085425.2:c.977C>T, NM_001085426.3:c.977C>T, NM_001085426.2:c.977C>T, NM_001085427.3:c.977C>T, NM_001085427.2:c.977C>T, NM_001085428.3:c.719C>T, NM_001085428.2:c.719C>T, NM_001362782.2:c.719C>T, NM_001362782.1:c.719C>T, XM_011530691.4:c.977C>T, XM_011530691.3:c.977C>T, XM_011530691.2:c.977C>T, XM_011530691.1:c.977C>T, XM_024452241.2:c.977C>T, XM_024452241.1:c.977C>T, XM_047441363.1:c.977C>T, NP_000478.3:p.Pro326Leu, NP_001078894.2:p.Pro326Leu, NP_001078895.2:p.Pro326Leu, NP_001078896.2:p.Pro326Leu, NP_001078897.1:p.Pro240Leu, NP_001349711.1:p.Pro240Leu, XP_011528993.1:p.Pro326Leu, XP_024308009.1:p.Pro326Leu, XP_047297319.1:p.Pro326Leu

Select item 147257937511.

rs1472579375 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:50626729 (GRCh38)
22:51065157 (GRCh37)
Canonical SPDI:: NC_000022.11:50626728:C:T
Gene:: ARSA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.50626729C>T, NC_000022.10:g.51065157C>T, NG_009260.2:g.6451G>A, NM_000487.6:c.716G>A, NM_000487.5:c.716G>A, NM_001085425.3:c.716G>A, NM_001085425.2:c.716G>A, NM_001085426.3:c.716G>A, NM_001085426.2:c.716G>A, NM_001085427.3:c.716G>A, NM_001085427.2:c.716G>A, NM_001085428.3:c.458G>A, NM_001085428.2:c.458G>A, NM_001362782.2:c.458G>A, NM_001362782.1:c.458G>A, XM_011530691.4:c.716G>A, XM_011530691.3:c.716G>A, XM_011530691.2:c.716G>A, XM_011530691.1:c.716G>A, XM_024452241.2:c.716G>A, XM_024452241.1:c.716G>A, XM_047441363.1:c.716G>A, NP_000478.3:p.Ser239Asn, NP_001078894.2:p.Ser239Asn, NP_001078895.2:p.Ser239Asn, NP_001078896.2:p.Ser239Asn, NP_001078897.1:p.Ser153Asn, NP_001349711.1:p.Ser153Asn, XP_011528993.1:p.Ser239Asn, XP_024308009.1:p.Ser239Asn, XP_047297319.1:p.Ser239Asn

Select item 146653542912.

rs1466535429 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 22:50625966 (GRCh38)
22:51064394 (GRCh37)
Canonical SPDI:: NC_000022.11:50625965:GT:
Gene:: ARSA (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.50625966_50625967del, NC_000022.10:g.51064394_51064395del, NG_009260.2:g.7213_7214del, NM_000487.6:c.1076_1077del, NM_000487.5:c.1076_1077del, NM_001085425.3:c.1076_1077del, NM_001085425.2:c.1076_1077del, NM_001085426.3:c.1076_1077del, NM_001085426.2:c.1076_1077del, NM_001085427.3:c.1076_1077del, NM_001085427.2:c.1076_1077del, NM_001085428.3:c.818_819del, NM_001085428.2:c.818_819del, NM_001362782.2:c.818_819del, NM_001362782.1:c.818_819del, XM_011530691.4:c.1076_1077del, XM_011530691.3:c.1076_1077del, XM_011530691.2:c.1076_1077del, XM_011530691.1:c.1076_1077del, XM_024452241.2:c.1076_1077del, XM_024452241.1:c.1076_1077del, XM_047441363.1:c.1076_1077del, NP_000478.3:p.Asp359fs, NP_001078894.2:p.Asp359fs, NP_001078895.2:p.Asp359fs, NP_001078896.2:p.Asp359fs, NP_001078897.1:p.Asp273fs, NP_001349711.1:p.Asp273fs, XP_011528993.1:p.Asp359fs, XP_024308009.1:p.Asp359fs, XP_047297319.1:p.Asp359fs

Select item 146381533013.

rs1463815330 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:50625991 (GRCh38)
22:51064419 (GRCh37)
Canonical SPDI:: NC_000022.11:50625990:G:A
Gene:: ARSA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.50625991G>A, NC_000022.10:g.51064419G>A, NG_009260.2:g.7189C>T, NM_000487.6:c.1052C>T, NM_000487.5:c.1052C>T, NM_001085425.3:c.1052C>T, NM_001085425.2:c.1052C>T, NM_001085426.3:c.1052C>T, NM_001085426.2:c.1052C>T, NM_001085427.3:c.1052C>T, NM_001085427.2:c.1052C>T, NM_001085428.3:c.794C>T, NM_001085428.2:c.794C>T, NM_001362782.2:c.794C>T, NM_001362782.1:c.794C>T, XM_011530691.4:c.1052C>T, XM_011530691.3:c.1052C>T, XM_011530691.2:c.1052C>T, XM_011530691.1:c.1052C>T, XM_024452241.2:c.1052C>T, XM_024452241.1:c.1052C>T, XM_047441363.1:c.1052C>T, NP_000478.3:p.Pro351Leu, NP_001078894.2:p.Pro351Leu, NP_001078895.2:p.Pro351Leu, NP_001078896.2:p.Pro351Leu, NP_001078897.1:p.Pro265Leu, NP_001349711.1:p.Pro265Leu, XP_011528993.1:p.Pro351Leu, XP_024308009.1:p.Pro351Leu, XP_047297319.1:p.Pro351Leu

Select item 146009296314.

rs1460092963 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:50625389 (GRCh38)
22:51063817 (GRCh37)
Canonical SPDI:: NC_000022.11:50625388:A:G
Gene:: ARSA (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50625389A>G, NC_000022.10:g.51063817A>G, NG_009260.2:g.7791T>C, NM_000487.6:c.1286T>C, NM_000487.5:c.1286T>C, NM_001085425.3:c.1286T>C, NM_001085425.2:c.1286T>C, NM_001085426.3:c.1286T>C, NM_001085426.2:c.1286T>C, NM_001085427.3:c.1286T>C, NM_001085427.2:c.1286T>C, NM_001085428.3:c.1028T>C, NM_001085428.2:c.1028T>C, NM_001362782.2:c.1028T>C, NM_001362782.1:c.1028T>C, XM_011530691.4:c.*19T>C, XM_011530691.3:c.*19T>C, XM_011530691.2:c.*19T>C, XM_011530691.1:c.*19T>C, XM_024452241.2:c.*19T>C, XM_024452241.1:c.*19T>C, XM_047441363.1:c.*19T>C, NP_000478.3:p.Leu429Pro, NP_001078894.2:p.Leu429Pro, NP_001078895.2:p.Leu429Pro, NP_001078896.2:p.Leu429Pro, NP_001078897.1:p.Leu343Pro, NP_001349711.1:p.Leu343Pro

Select item 145937084015.

rs1459370840 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:50627203 (GRCh38)
22:51065631 (GRCh37)
Canonical SPDI:: NC_000022.11:50627202:A:C
Gene:: ARSA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.50627203A>C, NC_000022.10:g.51065631A>C, NG_009260.2:g.5977T>G, NM_000487.6:c.428T>G, NM_000487.5:c.428T>G, NM_001085425.3:c.428T>G, NM_001085425.2:c.428T>G, NM_001085426.3:c.428T>G, NM_001085426.2:c.428T>G, NM_001085427.3:c.428T>G, NM_001085427.2:c.428T>G, NM_001085428.3:c.170T>G, NM_001085428.2:c.170T>G, NM_001362782.2:c.170T>G, NM_001362782.1:c.170T>G, XM_011530691.4:c.428T>G, XM_011530691.3:c.428T>G, XM_011530691.2:c.428T>G, XM_011530691.1:c.428T>G, XM_024452241.2:c.428T>G, XM_024452241.1:c.428T>G, XM_047441363.1:c.428T>G, NP_000478.3:p.Phe143Cys, NP_001078894.2:p.Phe143Cys, NP_001078895.2:p.Phe143Cys, NP_001078896.2:p.Phe143Cys, NP_001078897.1:p.Phe57Cys, NP_001349711.1:p.Phe57Cys, XP_011528993.1:p.Phe143Cys, XP_024308009.1:p.Phe143Cys, XP_047297319.1:p.Phe143Cys

Select item 145875086116.

rs1458750861 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:50626902 (GRCh38)
22:51065330 (GRCh37)
Canonical SPDI:: NC_000022.11:50626901:A:C
Gene:: ARSA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50626902A>C, NC_000022.10:g.51065330A>C, NG_009260.2:g.6278T>G, NM_000487.6:c.616T>G, NM_000487.5:c.616T>G, NM_001085425.3:c.616T>G, NM_001085425.2:c.616T>G, NM_001085426.3:c.616T>G, NM_001085426.2:c.616T>G, NM_001085427.3:c.616T>G, NM_001085427.2:c.616T>G, NM_001085428.3:c.358T>G, NM_001085428.2:c.358T>G, NM_001362782.2:c.358T>G, NM_001362782.1:c.358T>G, XM_011530691.4:c.616T>G, XM_011530691.3:c.616T>G, XM_011530691.2:c.616T>G, XM_011530691.1:c.616T>G, XM_024452241.2:c.616T>G, XM_024452241.1:c.616T>G, XM_047441363.1:c.616T>G, NP_000478.3:p.Phe206Val, NP_001078894.2:p.Phe206Val, NP_001078895.2:p.Phe206Val, NP_001078896.2:p.Phe206Val, NP_001078897.1:p.Phe120Val, NP_001349711.1:p.Phe120Val, XP_011528993.1:p.Phe206Val, XP_024308009.1:p.Phe206Val, XP_047297319.1:p.Phe206Val

Select item 145667745717.

rs1456677457 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 22:50625262 (GRCh38)
22:51063690 (GRCh37)
Canonical SPDI:: NC_000022.11:50625261:A:G,NC_000022.11:50625261:A:T
Gene:: ARSA (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000085/3 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.50625262A>G, NC_000022.11:g.50625262A>T, NC_000022.10:g.51063690A>G, NC_000022.10:g.51063690A>T, NG_009260.2:g.7918T>C, NG_009260.2:g.7918T>A, NM_000487.6:c.1413T>C, NM_000487.6:c.1413T>A, NM_000487.5:c.1413T>C, NM_000487.5:c.1413T>A, NM_001085425.3:c.1413T>C, NM_001085425.3:c.1413T>A, NM_001085425.2:c.1413T>C, NM_001085425.2:c.1413T>A, NM_001085426.3:c.1413T>C, NM_001085426.3:c.1413T>A, NM_001085426.2:c.1413T>C, NM_001085426.2:c.1413T>A, NM_001085427.3:c.1413T>C, NM_001085427.3:c.1413T>A, NM_001085427.2:c.1413T>C, NM_001085427.2:c.1413T>A, NM_001085428.3:c.1155T>C, NM_001085428.3:c.1155T>A, NM_001085428.2:c.1155T>C, NM_001085428.2:c.1155T>A, NM_001362782.2:c.1155T>C, NM_001362782.2:c.1155T>A, NM_001362782.1:c.1155T>C, NM_001362782.1:c.1155T>A, XM_011530691.4:c.*146T>C, XM_011530691.4:c.*146T>A, XM_011530691.3:c.*146T>C, XM_011530691.3:c.*146T>A, XM_011530691.2:c.*146T>C, XM_011530691.2:c.*146T>A, XM_011530691.1:c.*146T>C, XM_011530691.1:c.*146T>A, XM_024452241.2:c.*146T>C, XM_024452241.2:c.*146T>A, XM_024452241.1:c.*146T>C, XM_024452241.1:c.*146T>A, XM_047441363.1:c.*146T>C, XM_047441363.1:c.*146T>A

Select item 145636366518.

rs1456363665 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:50625176 (GRCh38)
22:51063604 (GRCh37)
Canonical SPDI:: NC_000022.11:50625175:G:A
Gene:: ARSA (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.50625176G>A, NC_000022.10:g.51063604G>A, NG_009260.2:g.8004C>T, NM_000487.6:c.1499C>T, NM_000487.5:c.1499C>T, NM_001085425.3:c.1499C>T, NM_001085425.2:c.1499C>T, NM_001085426.3:c.1499C>T, NM_001085426.2:c.1499C>T, NM_001085427.3:c.1499C>T, NM_001085427.2:c.1499C>T, NM_001085428.3:c.1241C>T, NM_001085428.2:c.1241C>T, NM_001362782.2:c.1241C>T, NM_001362782.1:c.1241C>T, XM_011530691.4:c.*232C>T, XM_011530691.3:c.*232C>T, XM_011530691.2:c.*232C>T, XM_011530691.1:c.*232C>T, XM_024452241.2:c.*232C>T, XM_024452241.1:c.*232C>T, XM_047441363.1:c.*232C>T, NP_000478.3:p.Ala500Val, NP_001078894.2:p.Ala500Val, NP_001078895.2:p.Ala500Val, NP_001078896.2:p.Ala500Val, NP_001078897.1:p.Ala414Val, NP_001349711.1:p.Ala414Val

Select item 145033974219.

rs1450339742 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:50625364 (GRCh38)
22:51063792 (GRCh37)
Canonical SPDI:: NC_000022.11:50625363:A:G
Gene:: ARSA (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.50625364A>G, NC_000022.10:g.51063792A>G, NG_009260.2:g.7816T>C, NM_000487.6:c.1311T>C, NM_000487.5:c.1311T>C, NM_001085425.3:c.1311T>C, NM_001085425.2:c.1311T>C, NM_001085426.3:c.1311T>C, NM_001085426.2:c.1311T>C, NM_001085427.3:c.1311T>C, NM_001085427.2:c.1311T>C, NM_001085428.3:c.1053T>C, NM_001085428.2:c.1053T>C, NM_001362782.2:c.1053T>C, NM_001362782.1:c.1053T>C, XM_011530691.4:c.*44T>C, XM_011530691.3:c.*44T>C, XM_011530691.2:c.*44T>C, XM_011530691.1:c.*44T>C, XM_024452241.2:c.*44T>C, XM_024452241.1:c.*44T>C, XM_047441363.1:c.*44T>C

Select item 144859952720.

rs1448599527 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:50626022 (GRCh38)
22:51064450 (GRCh37)
Canonical SPDI:: NC_000022.11:50626021:T:A
Gene:: ARSA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.50626022T>A, NC_000022.10:g.51064450T>A, NG_009260.2:g.7158A>T, NM_000487.6:c.1021A>T, NM_000487.5:c.1021A>T, NM_001085425.3:c.1021A>T, NM_001085425.2:c.1021A>T, NM_001085426.3:c.1021A>T, NM_001085426.2:c.1021A>T, NM_001085427.3:c.1021A>T, NM_001085427.2:c.1021A>T, NM_001085428.3:c.763A>T, NM_001085428.2:c.763A>T, NM_001362782.2:c.763A>T, NM_001362782.1:c.763A>T, XM_011530691.4:c.1021A>T, XM_011530691.3:c.1021A>T, XM_011530691.2:c.1021A>T, XM_011530691.1:c.1021A>T, XM_024452241.2:c.1021A>T, XM_024452241.1:c.1021A>T, XM_047441363.1:c.1021A>T, NP_000478.3:p.Thr341Ser, NP_001078894.2:p.Thr341Ser, NP_001078895.2:p.Thr341Ser, NP_001078896.2:p.Thr341Ser, NP_001078897.1:p.Thr255Ser, NP_001349711.1:p.Thr255Ser, XP_011528993.1:p.Thr341Ser, XP_024308009.1:p.Thr341Ser, XP_047297319.1:p.Thr341Ser

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