SNP Links for Protein (Select 530395043) - SNP

Select item 14857781631.

rs1485778163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:3641859 (GRCh38)
11:3663089 (GRCh37)
Canonical SPDI:: NC_000011.10:3641858:C:A,NC_000011.10:3641858:C:T
Gene:: ART5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.3641859C>A, NC_000011.10:g.3641859C>T, NC_000011.9:g.3663089C>A, NC_000011.9:g.3663089C>T, XM_006718136.5:c.4G>T, XM_006718136.5:c.4G>A, XM_006718136.4:c.4G>T, XM_006718136.4:c.4G>A, XM_006718136.3:c.4G>T, XM_006718136.3:c.4G>A, XM_006718136.2:c.4G>T, XM_006718136.2:c.4G>A, XM_006718136.1:c.4G>T, XM_006718136.1:c.4G>A, NM_053017.5:c.4G>T, NM_053017.5:c.4G>A, NM_053017.4:c.4G>T, NM_053017.4:c.4G>A, NM_053017.3:c.4G>T, NM_053017.3:c.4G>A, XM_011519879.4:c.4G>T, XM_011519879.4:c.4G>A, XM_011519879.3:c.4G>T, XM_011519879.3:c.4G>A, XM_011519879.2:c.4G>T, XM_011519879.2:c.4G>A, XM_011519879.1:c.4G>T, XM_011519879.1:c.4G>A, XM_005252779.4:c.4G>T, XM_005252779.4:c.4G>A, XM_005252779.3:c.4G>T, XM_005252779.3:c.4G>A, XM_005252779.2:c.4G>T, XM_005252779.2:c.4G>A, XM_005252779.1:c.4G>T, XM_005252779.1:c.4G>A, NM_001079536.2:c.4G>T, NM_001079536.2:c.4G>A, NM_001079536.1:c.4G>T, NM_001079536.1:c.4G>A, NM_001297668.2:c.4G>T, NM_001297668.2:c.4G>A, NM_001297668.1:c.4G>T, NM_001297668.1:c.4G>A, XP_006718199.1:p.Ala2Ser, XP_006718199.1:p.Ala2Thr, NP_443750.2:p.Ala2Ser, NP_443750.2:p.Ala2Thr, XP_011518181.1:p.Ala2Ser, XP_011518181.1:p.Ala2Thr, XP_005252836.1:p.Ala2Ser, XP_005252836.1:p.Ala2Thr, NP_001073004.1:p.Ala2Ser, NP_001073004.1:p.Ala2Thr, NP_001284597.1:p.Ala2Ser, NP_001284597.1:p.Ala2Thr

Select item 14824458862.

rs1482445886 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:3641809 (GRCh38)
11:3663039 (GRCh37)
Canonical SPDI:: NC_000011.10:3641808:C:T
Gene:: ART5 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.3641809C>T, NC_000011.9:g.3663039C>T, XM_006718136.5:c.54G>A, XM_006718136.4:c.54G>A, XM_006718136.3:c.54G>A, XM_006718136.2:c.54G>A, XM_006718136.1:c.54G>A, NM_053017.5:c.54G>A, NM_053017.4:c.54G>A, NM_053017.3:c.54G>A, XM_011519879.4:c.54G>A, XM_011519879.3:c.54G>A, XM_011519879.2:c.54G>A, XM_011519879.1:c.54G>A, XM_005252779.4:c.54G>A, XM_005252779.3:c.54G>A, XM_005252779.2:c.54G>A, XM_005252779.1:c.54G>A, NM_001079536.2:c.54G>A, NM_001079536.1:c.54G>A, NM_001297668.2:c.54G>A, NM_001297668.1:c.54G>A, XP_006718199.1:p.Trp18Ter, NP_443750.2:p.Trp18Ter, XP_011518181.1:p.Trp18Ter, XP_005252836.1:p.Trp18Ter, NP_001073004.1:p.Trp18Ter, NP_001284597.1:p.Trp18Ter

Select item 14785931983.

rs1478593198 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:3640334 (GRCh38)
11:3661564 (GRCh37)
Canonical SPDI:: NC_000011.10:3640333:G:A
Gene:: ART5 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.3640334G>A, NC_000011.9:g.3661564G>A, XM_006718136.5:c.95C>T, XM_006718136.4:c.95C>T, XM_006718136.3:c.95C>T, XM_006718136.2:c.95C>T, XM_006718136.1:c.95C>T, NM_053017.5:c.95C>T, NM_053017.4:c.95C>T, NM_053017.3:c.95C>T, XM_011519879.4:c.95C>T, XM_011519879.3:c.95C>T, XM_011519879.2:c.95C>T, XM_011519879.1:c.95C>T, XM_005252779.4:c.95C>T, XM_005252779.3:c.95C>T, XM_005252779.2:c.95C>T, XM_005252779.1:c.95C>T, NM_001079536.2:c.95C>T, NM_001079536.1:c.95C>T, NM_001297668.2:c.95C>T, NM_001297668.1:c.95C>T, XP_006718199.1:p.Pro32Leu, NP_443750.2:p.Pro32Leu, XP_011518181.1:p.Pro32Leu, XP_005252836.1:p.Pro32Leu, NP_001073004.1:p.Pro32Leu, NP_001284597.1:p.Pro32Leu

Select item 14774737884.

rs1477473788 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:3641829 (GRCh38)
11:3663059 (GRCh37)
Canonical SPDI:: NC_000011.10:3641828:T:C
Gene:: ART5 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.3641829T>C, NC_000011.9:g.3663059T>C, XM_006718136.5:c.34A>G, XM_006718136.4:c.34A>G, XM_006718136.3:c.34A>G, XM_006718136.2:c.34A>G, XM_006718136.1:c.34A>G, NM_053017.5:c.34A>G, NM_053017.4:c.34A>G, NM_053017.3:c.34A>G, XM_011519879.4:c.34A>G, XM_011519879.3:c.34A>G, XM_011519879.2:c.34A>G, XM_011519879.1:c.34A>G, XM_005252779.4:c.34A>G, XM_005252779.3:c.34A>G, XM_005252779.2:c.34A>G, XM_005252779.1:c.34A>G, NM_001079536.2:c.34A>G, NM_001079536.1:c.34A>G, NM_001297668.2:c.34A>G, NM_001297668.1:c.34A>G, XP_006718199.1:p.Ser12Gly, NP_443750.2:p.Ser12Gly, XP_011518181.1:p.Ser12Gly, XP_005252836.1:p.Ser12Gly, NP_001073004.1:p.Ser12Gly, NP_001284597.1:p.Ser12Gly

Select item 14767493795.

rs1476749379 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGC>- [Show Flanks]
Chromosome:: 11:3640004 (GRCh38)
11:3661234 (GRCh37)
Canonical SPDI:: NC_000011.10:3640001:GCTGC:GC
Gene:: ART5 (Varview)
Functional Consequence:: inframe_deletion,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GC=0.000071/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000043/6 (GnomAD)
-=0.000162/43 (TOPMED)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000011.10:g.3640004_3640006del, NC_000011.9:g.3661234_3661236del, XM_006718136.5:c.425_427del, XM_006718136.4:c.425_427del, XM_006718136.3:c.425_427del, XM_006718136.2:c.425_427del, XM_006718136.1:c.425_427del, NM_053017.5:c.425_427del, NM_053017.4:c.425_427del, NM_053017.3:c.425_427del, XM_011519879.4:c.425_427del, XM_011519879.3:c.425_427del, XM_011519879.2:c.425_427del, XM_011519879.1:c.425_427del, XM_005252779.4:c.425_427del, XM_005252779.3:c.425_427del, XM_005252779.2:c.425_427del, XM_005252779.1:c.425_427del, NM_001079536.2:c.425_427del, NM_001079536.1:c.425_427del, NM_001297668.2:c.425_427del, NM_001297668.1:c.425_427del, XP_006718199.1:p.Gln142del, NP_443750.2:p.Gln142del, XP_011518181.1:p.Gln142del, XP_005252836.1:p.Gln142del, NP_001073004.1:p.Gln142del, NP_001284597.1:p.Gln142del

Select item 14764432926.

rs1476443292 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 11:3641849 (GRCh38)
11:3663079 (GRCh37)
Canonical SPDI:: NC_000011.10:3641848:G:
Gene:: ART5 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.3641849del, NC_000011.9:g.3663079del, XM_006718136.5:c.14del, XM_006718136.4:c.14del, XM_006718136.3:c.14del, XM_006718136.2:c.14del, XM_006718136.1:c.14del, NM_053017.5:c.14del, NM_053017.4:c.14del, NM_053017.3:c.14del, XM_011519879.4:c.14del, XM_011519879.3:c.14del, XM_011519879.2:c.14del, XM_011519879.1:c.14del, XM_005252779.4:c.14del, XM_005252779.3:c.14del, XM_005252779.2:c.14del, XM_005252779.1:c.14del, NM_001079536.2:c.14del, NM_001079536.1:c.14del, NM_001297668.2:c.14del, NM_001297668.1:c.14del, XP_006718199.1:p.Ala5fs, NP_443750.2:p.Ala5fs, XP_011518181.1:p.Ala5fs, XP_005252836.1:p.Ala5fs, NP_001073004.1:p.Ala5fs, NP_001284597.1:p.Ala5fs

Select item 14726102597.

rs1472610259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:3640205 (GRCh38)
11:3661435 (GRCh37)
Canonical SPDI:: NC_000011.10:3640204:C:T
Gene:: ART5 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.3640205C>T, NC_000011.9:g.3661435C>T, XM_006718136.5:c.224G>A, XM_006718136.4:c.224G>A, XM_006718136.3:c.224G>A, XM_006718136.2:c.224G>A, XM_006718136.1:c.224G>A, NM_053017.5:c.224G>A, NM_053017.4:c.224G>A, NM_053017.3:c.224G>A, XM_011519879.4:c.224G>A, XM_011519879.3:c.224G>A, XM_011519879.2:c.224G>A, XM_011519879.1:c.224G>A, XM_005252779.4:c.224G>A, XM_005252779.3:c.224G>A, XM_005252779.2:c.224G>A, XM_005252779.1:c.224G>A, NM_001079536.2:c.224G>A, NM_001079536.1:c.224G>A, NM_001297668.2:c.224G>A, NM_001297668.1:c.224G>A, XP_006718199.1:p.Trp75Ter, NP_443750.2:p.Trp75Ter, XP_011518181.1:p.Trp75Ter, XP_005252836.1:p.Trp75Ter, NP_001073004.1:p.Trp75Ter, NP_001284597.1:p.Trp75Ter

Select item 14723245278.

rs1472324527 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:3640289 (GRCh38)
11:3661519 (GRCh37)
Canonical SPDI:: NC_000011.10:3640288:T:G
Gene:: ART5 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.3640289T>G, NC_000011.9:g.3661519T>G, XM_006718136.5:c.140A>C, XM_006718136.4:c.140A>C, XM_006718136.3:c.140A>C, XM_006718136.2:c.140A>C, XM_006718136.1:c.140A>C, NM_053017.5:c.140A>C, NM_053017.4:c.140A>C, NM_053017.3:c.140A>C, XM_011519879.4:c.140A>C, XM_011519879.3:c.140A>C, XM_011519879.2:c.140A>C, XM_011519879.1:c.140A>C, XM_005252779.4:c.140A>C, XM_005252779.3:c.140A>C, XM_005252779.2:c.140A>C, XM_005252779.1:c.140A>C, NM_001079536.2:c.140A>C, NM_001079536.1:c.140A>C, NM_001297668.2:c.140A>C, NM_001297668.1:c.140A>C, XP_006718199.1:p.Glu47Ala, NP_443750.2:p.Glu47Ala, XP_011518181.1:p.Glu47Ala, XP_005252836.1:p.Glu47Ala, NP_001073004.1:p.Glu47Ala, NP_001284597.1:p.Glu47Ala

Select item 14697369169.

rs1469736916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:3640137 (GRCh38)
11:3661367 (GRCh37)
Canonical SPDI:: NC_000011.10:3640136:C:T
Gene:: ART5 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.3640137C>T, NC_000011.9:g.3661367C>T, XM_006718136.5:c.292G>A, XM_006718136.4:c.292G>A, XM_006718136.3:c.292G>A, XM_006718136.2:c.292G>A, XM_006718136.1:c.292G>A, NM_053017.5:c.292G>A, NM_053017.4:c.292G>A, NM_053017.3:c.292G>A, XM_011519879.4:c.292G>A, XM_011519879.3:c.292G>A, XM_011519879.2:c.292G>A, XM_011519879.1:c.292G>A, XM_005252779.4:c.292G>A, XM_005252779.3:c.292G>A, XM_005252779.2:c.292G>A, XM_005252779.1:c.292G>A, NM_001079536.2:c.292G>A, NM_001079536.1:c.292G>A, NM_001297668.2:c.292G>A, NM_001297668.1:c.292G>A, XP_006718199.1:p.Val98Ile, NP_443750.2:p.Val98Ile, XP_011518181.1:p.Val98Ile, XP_005252836.1:p.Val98Ile, NP_001073004.1:p.Val98Ile, NP_001284597.1:p.Val98Ile

Select item 146407159210.

rs1464071592 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:3640214 (GRCh38)
11:3661444 (GRCh37)
Canonical SPDI:: NC_000011.10:3640213:T:C
Gene:: ART5 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.3640214T>C, NC_000011.9:g.3661444T>C, XM_006718136.5:c.215A>G, XM_006718136.4:c.215A>G, XM_006718136.3:c.215A>G, XM_006718136.2:c.215A>G, XM_006718136.1:c.215A>G, NM_053017.5:c.215A>G, NM_053017.4:c.215A>G, NM_053017.3:c.215A>G, XM_011519879.4:c.215A>G, XM_011519879.3:c.215A>G, XM_011519879.2:c.215A>G, XM_011519879.1:c.215A>G, XM_005252779.4:c.215A>G, XM_005252779.3:c.215A>G, XM_005252779.2:c.215A>G, XM_005252779.1:c.215A>G, NM_001079536.2:c.215A>G, NM_001079536.1:c.215A>G, NM_001297668.2:c.215A>G, NM_001297668.1:c.215A>G, XP_006718199.1:p.Gln72Arg, NP_443750.2:p.Gln72Arg, XP_011518181.1:p.Gln72Arg, XP_005252836.1:p.Gln72Arg, NP_001073004.1:p.Gln72Arg, NP_001284597.1:p.Gln72Arg

Select item 146000224611.

rs1460002246 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:3638860 (GRCh38)
11:3660090 (GRCh37)
Canonical SPDI:: NC_000011.10:3638859:G:A
Gene:: ART5 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.3638860G>A, NC_000011.9:g.3660090G>A, XM_006718136.5:c.883C>T, XM_006718136.4:c.883C>T, XM_006718136.3:c.883C>T, XM_006718136.2:c.883C>T, XM_006718136.1:c.883C>T, XM_011519879.4:c.883C>T, XM_011519879.3:c.883C>T, XM_011519879.2:c.883C>T, XM_011519879.1:c.883C>T, XM_005252779.4:c.880C>T, XM_005252779.3:c.880C>T, XM_005252779.2:c.880C>T, XM_005252779.1:c.880C>T, NM_001297668.2:c.676C>T, NM_001297668.1:c.676C>T, XP_006718199.1:p.Leu295Phe, XP_011518181.1:p.Leu295Phe, XP_005252836.1:p.Leu294Phe, NP_001284597.1:p.Leu226Phe

Select item 145258064812.

rs1452580648 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCCG [Show Flanks]
Chromosome:: 11:3640009 (GRCh38)
11:3661240 (GRCh37)
Canonical SPDI:: NC_000011.10:3640009:GCCCG:GCCCGCCCG
Gene:: ART5 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCCCGCCCG=0./0 (ALFA)
GCCC=0.000007/1 (GnomAD)
GCCC=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.3640011_3640014dup, NC_000011.9:g.3661241_3661244dup, XM_006718136.5:c.416_419dup, XM_006718136.4:c.416_419dup, XM_006718136.3:c.416_419dup, XM_006718136.2:c.416_419dup, XM_006718136.1:c.416_419dup, NM_053017.5:c.416_419dup, NM_053017.4:c.416_419dup, NM_053017.3:c.416_419dup, XM_011519879.4:c.416_419dup, XM_011519879.3:c.416_419dup, XM_011519879.2:c.416_419dup, XM_011519879.1:c.416_419dup, XM_005252779.4:c.416_419dup, XM_005252779.3:c.416_419dup, XM_005252779.2:c.416_419dup, XM_005252779.1:c.416_419dup, NM_001079536.2:c.416_419dup, NM_001079536.1:c.416_419dup, NM_001297668.2:c.416_419dup, NM_001297668.1:c.416_419dup, XP_006718199.1:p.Leu141fs, NP_443750.2:p.Leu141fs, XP_011518181.1:p.Leu141fs, XP_005252836.1:p.Leu141fs, NP_001073004.1:p.Leu141fs, NP_001284597.1:p.Leu141fs

Select item 145039980913.

rs1450399809 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:3638835 (GRCh38)
11:3660065 (GRCh37)
Canonical SPDI:: NC_000011.10:3638834:A:G
Gene:: ART5 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.3638835A>G, NC_000011.9:g.3660065A>G, XM_006718136.5:c.908T>C, XM_006718136.4:c.908T>C, XM_006718136.3:c.908T>C, XM_006718136.2:c.908T>C, XM_006718136.1:c.908T>C, XM_011519879.4:c.908T>C, XM_011519879.3:c.908T>C, XM_011519879.2:c.908T>C, XM_011519879.1:c.908T>C, XM_005252779.4:c.905T>C, XM_005252779.3:c.905T>C, XM_005252779.2:c.905T>C, XM_005252779.1:c.905T>C, NM_001297668.2:c.701T>C, NM_001297668.1:c.701T>C, XP_006718199.1:p.Leu303Pro, XP_011518181.1:p.Leu303Pro, XP_005252836.1:p.Leu302Pro, NP_001284597.1:p.Leu234Pro

Select item 144874717414.

rs1448747174 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:3640327 (GRCh38)
11:3661557 (GRCh37)
Canonical SPDI:: NC_000011.10:3640326:G:T
Gene:: ART5 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.3640327G>T, NC_000011.9:g.3661557G>T, XM_006718136.5:c.102C>A, XM_006718136.4:c.102C>A, XM_006718136.3:c.102C>A, XM_006718136.2:c.102C>A, XM_006718136.1:c.102C>A, NM_053017.5:c.102C>A, NM_053017.4:c.102C>A, NM_053017.3:c.102C>A, XM_011519879.4:c.102C>A, XM_011519879.3:c.102C>A, XM_011519879.2:c.102C>A, XM_011519879.1:c.102C>A, XM_005252779.4:c.102C>A, XM_005252779.3:c.102C>A, XM_005252779.2:c.102C>A, XM_005252779.1:c.102C>A, NM_001079536.2:c.102C>A, NM_001079536.1:c.102C>A, NM_001297668.2:c.102C>A, NM_001297668.1:c.102C>A

Select item 144752828715.

rs1447528287 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:3639732 (GRCh38)
11:3660962 (GRCh37)
Canonical SPDI:: NC_000011.10:3639731:T:C
Gene:: ART5 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.3639732T>C, NC_000011.9:g.3660962T>C, XM_006718136.5:c.697A>G, XM_006718136.4:c.697A>G, XM_006718136.3:c.697A>G, XM_006718136.2:c.697A>G, XM_006718136.1:c.697A>G, NM_053017.5:c.697A>G, NM_053017.4:c.697A>G, NM_053017.3:c.697A>G, XM_011519879.4:c.697A>G, XM_011519879.3:c.697A>G, XM_011519879.2:c.697A>G, XM_011519879.1:c.697A>G, XM_005252779.4:c.697A>G, XM_005252779.3:c.697A>G, XM_005252779.2:c.697A>G, XM_005252779.1:c.697A>G, NM_001079536.2:c.697A>G, NM_001079536.1:c.697A>G, NR_123732.2:n.266A>G, NR_123732.1:n.203A>G, XP_006718199.1:p.Thr233Ala, NP_443750.2:p.Thr233Ala, XP_011518181.1:p.Thr233Ala, XP_005252836.1:p.Thr233Ala, NP_001073004.1:p.Thr233Ala

Select item 144599092316.

rs1445990923 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:3639927 (GRCh38)
11:3661158 (GRCh37)
Canonical SPDI:: NC_000011.10:3639927:AAA:AAAA
Gene:: ART5 (Varview)
Functional Consequence:: intron_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.3639930dup, NC_000011.9:g.3661160dup, XM_006718136.5:c.501dup, XM_006718136.4:c.501dup, XM_006718136.3:c.501dup, XM_006718136.2:c.501dup, XM_006718136.1:c.501dup, NM_053017.5:c.501dup, NM_053017.4:c.501dup, NM_053017.3:c.501dup, XM_011519879.4:c.501dup, XM_011519879.3:c.501dup, XM_011519879.2:c.501dup, XM_011519879.1:c.501dup, XM_005252779.4:c.501dup, XM_005252779.3:c.501dup, XM_005252779.2:c.501dup, XM_005252779.1:c.501dup, NM_001079536.2:c.501dup, NM_001079536.1:c.501dup, NM_001297668.2:c.501dup, NM_001297668.1:c.501dup, XP_006718199.1:p.Glu168Ter, NP_443750.2:p.Glu168Ter, XP_011518181.1:p.Glu168Ter, XP_005252836.1:p.Glu168Ter, NP_001073004.1:p.Glu168Ter, NP_001284597.1:p.Glu168Ter

Select item 144524793617.

rs1445247936 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:3640171 (GRCh38)
11:3661401 (GRCh37)
Canonical SPDI:: NC_000011.10:3640170:A:G
Gene:: ART5 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.3640171A>G, NC_000011.9:g.3661401A>G, XM_006718136.5:c.258T>C, XM_006718136.4:c.258T>C, XM_006718136.3:c.258T>C, XM_006718136.2:c.258T>C, XM_006718136.1:c.258T>C, NM_053017.5:c.258T>C, NM_053017.4:c.258T>C, NM_053017.3:c.258T>C, XM_011519879.4:c.258T>C, XM_011519879.3:c.258T>C, XM_011519879.2:c.258T>C, XM_011519879.1:c.258T>C, XM_005252779.4:c.258T>C, XM_005252779.3:c.258T>C, XM_005252779.2:c.258T>C, XM_005252779.1:c.258T>C, NM_001079536.2:c.258T>C, NM_001079536.1:c.258T>C, NM_001297668.2:c.258T>C, NM_001297668.1:c.258T>C

Select item 144400211318.

rs1444002113 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:3639956 (GRCh38)
11:3661186 (GRCh37)
Canonical SPDI:: NC_000011.10:3639955:A:G,NC_000011.10:3639955:A:T
Gene:: ART5 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.3639956A>G, NC_000011.10:g.3639956A>T, NC_000011.9:g.3661186A>G, NC_000011.9:g.3661186A>T, XM_006718136.5:c.473T>C, XM_006718136.5:c.473T>A, XM_006718136.4:c.473T>C, XM_006718136.4:c.473T>A, XM_006718136.3:c.473T>C, XM_006718136.3:c.473T>A, XM_006718136.2:c.473T>C, XM_006718136.2:c.473T>A, XM_006718136.1:c.473T>C, XM_006718136.1:c.473T>A, NM_053017.5:c.473T>C, NM_053017.5:c.473T>A, NM_053017.4:c.473T>C, NM_053017.4:c.473T>A, NM_053017.3:c.473T>C, NM_053017.3:c.473T>A, XM_011519879.4:c.473T>C, XM_011519879.4:c.473T>A, XM_011519879.3:c.473T>C, XM_011519879.3:c.473T>A, XM_011519879.2:c.473T>C, XM_011519879.2:c.473T>A, XM_011519879.1:c.473T>C, XM_011519879.1:c.473T>A, XM_005252779.4:c.473T>C, XM_005252779.4:c.473T>A, XM_005252779.3:c.473T>C, XM_005252779.3:c.473T>A, XM_005252779.2:c.473T>C, XM_005252779.2:c.473T>A, XM_005252779.1:c.473T>C, XM_005252779.1:c.473T>A, NM_001079536.2:c.473T>C, NM_001079536.2:c.473T>A, NM_001079536.1:c.473T>C, NM_001079536.1:c.473T>A, NM_001297668.2:c.473T>C, NM_001297668.2:c.473T>A, NM_001297668.1:c.473T>C, NM_001297668.1:c.473T>A, XP_006718199.1:p.Val158Ala, XP_006718199.1:p.Val158Glu, NP_443750.2:p.Val158Ala, NP_443750.2:p.Val158Glu, XP_011518181.1:p.Val158Ala, XP_011518181.1:p.Val158Glu, XP_005252836.1:p.Val158Ala, XP_005252836.1:p.Val158Glu, NP_001073004.1:p.Val158Ala, NP_001073004.1:p.Val158Glu, NP_001284597.1:p.Val158Ala, NP_001284597.1:p.Val158Glu

Select item 144378379319.

rs1443783793 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:3639788 (GRCh38)
11:3661018 (GRCh37)
Canonical SPDI:: NC_000011.10:3639787:G:C
Gene:: ART5 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_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_000011.10:g.3639788G>C, NC_000011.9:g.3661018G>C, XM_006718136.5:c.641C>G, XM_006718136.4:c.641C>G, XM_006718136.3:c.641C>G, XM_006718136.2:c.641C>G, XM_006718136.1:c.641C>G, NM_053017.5:c.641C>G, NM_053017.4:c.641C>G, NM_053017.3:c.641C>G, XM_011519879.4:c.641C>G, XM_011519879.3:c.641C>G, XM_011519879.2:c.641C>G, XM_011519879.1:c.641C>G, XM_005252779.4:c.641C>G, XM_005252779.3:c.641C>G, XM_005252779.2:c.641C>G, XM_005252779.1:c.641C>G, NM_001079536.2:c.641C>G, NM_001079536.1:c.641C>G, NR_123732.2:n.210C>G, NR_123732.1:n.147C>G, XP_006718199.1:p.Ser214Cys, NP_443750.2:p.Ser214Cys, XP_011518181.1:p.Ser214Cys, XP_005252836.1:p.Ser214Cys, NP_001073004.1:p.Ser214Cys

Select item 143739173720.

rs1437391737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:3639022 (GRCh38)
11:3660252 (GRCh37)
Canonical SPDI:: NC_000011.10:3639021:C:A
Gene:: ART5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.3639022C>A, NC_000011.9:g.3660252C>A, XM_006718136.5:c.801G>T, XM_006718136.4:c.801G>T, XM_006718136.3:c.801G>T, XM_006718136.2:c.801G>T, XM_006718136.1:c.801G>T, NM_053017.5:c.801G>T, NM_053017.4:c.801G>T, NM_053017.3:c.801G>T, XM_011519879.4:c.801G>T, XM_011519879.3:c.801G>T, XM_011519879.2:c.801G>T, XM_011519879.1:c.801G>T, XM_005252779.4:c.801G>T, XM_005252779.3:c.801G>T, XM_005252779.2:c.801G>T, XM_005252779.1:c.801G>T, NM_001079536.2:c.801G>T, NM_001079536.1:c.801G>T, NM_001297668.2:c.597G>T, NM_001297668.1:c.597G>T, NR_123732.2:n.370G>T, NR_123732.1:n.307G>T

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dbSNP

Result Filters

Clinical Significance

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Global MAF

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Items: 1 to 20 of 393

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