SNP Links for Protein (Select 998074994) - SNP

Links from Protein

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Select item 14913492171.

rs1491349217 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 1:76868604 (GRCh38)
1:77334289 (GRCh37)
Canonical SPDI:: NC_000001.11:76868603:GC:
Gene:: ST6GALNAC5 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000008/2 (GnomAD_exomes)
-=0.00001/1 (ExAC)
-=0.000022/3 (GnomAD)
HGVS:: NC_000001.11:g.76868604_76868605del, NC_000001.10:g.77334289_77334290del, NM_030965.3:c.123_124del, NM_030965.2:c.123_124del, NM_030965.1:c.123_124del, NM_001320273.2:c.123_124del, NM_001320273.1:c.123_124del, NM_001320274.2:c.123_124del, NM_001320274.1:c.123_124del, NP_112227.1:p.Gln42fs, NP_001307202.1:p.Gln42fs, NP_001307203.1:p.Gln42fs

Select item 14807505812.

rs1480750581 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:76868590 (GRCh38)
1:77334275 (GRCh37)
Canonical SPDI:: NC_000001.11:76868589:C:G,NC_000001.11:76868589:C:T
Gene:: ST6GALNAC5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.76868590C>G, NC_000001.11:g.76868590C>T, NC_000001.10:g.77334275C>G, NC_000001.10:g.77334275C>T, NM_030965.3:c.109C>G, NM_030965.3:c.109C>T, NM_030965.2:c.109C>G, NM_030965.2:c.109C>T, NM_030965.1:c.109C>G, NM_030965.1:c.109C>T, NM_001320273.2:c.109C>G, NM_001320273.2:c.109C>T, NM_001320273.1:c.109C>G, NM_001320273.1:c.109C>T, NM_001320274.2:c.109C>G, NM_001320274.2:c.109C>T, NM_001320274.1:c.109C>G, NM_001320274.1:c.109C>T, NP_112227.1:p.Pro37Ala, NP_112227.1:p.Pro37Ser, NP_001307202.1:p.Pro37Ala, NP_001307202.1:p.Pro37Ser, NP_001307203.1:p.Pro37Ala, NP_001307203.1:p.Pro37Ser

Select item 14774118843.

rs1477411884 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:76868624 (GRCh38)
1:77334309 (GRCh37)
Canonical SPDI:: NC_000001.11:76868623:A:C
Gene:: ST6GALNAC5 (Varview)
Functional Consequence:: 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_000001.11:g.76868624A>C, NC_000001.10:g.77334309A>C, NM_030965.3:c.143A>C, NM_030965.2:c.143A>C, NM_030965.1:c.143A>C, NM_001320273.2:c.143A>C, NM_001320273.1:c.143A>C, NM_001320274.2:c.143A>C, NM_001320274.1:c.143A>C, NP_112227.1:p.Gln48Pro, NP_001307202.1:p.Gln48Pro, NP_001307203.1:p.Gln48Pro

Select item 14748380344.

rs1474838034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:77062989 (GRCh38)
1:77528674 (GRCh37)
Canonical SPDI:: NC_000001.11:77062988:C:T
Gene:: ST6GALNAC5 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.77062989C>T, NC_000001.10:g.77528674C>T, NM_030965.3:c.794C>T, NM_030965.2:c.794C>T, NM_030965.1:c.794C>T, NM_001320273.2:c.*57C>T, NM_001320273.1:c.*57C>T, NM_001320274.2:c.276C>T, NM_001320274.1:c.276C>T, NP_112227.1:p.Pro265Leu

Select item 14657657615.

rs1465765761 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:76868534 (GRCh38)
1:77334219 (GRCh37)
Canonical SPDI:: NC_000001.11:76868533:T:C
Gene:: ST6GALNAC5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.76868534T>C, NC_000001.10:g.77334219T>C, NM_030965.3:c.53T>C, NM_030965.2:c.53T>C, NM_030965.1:c.53T>C, NM_001320273.2:c.53T>C, NM_001320273.1:c.53T>C, NM_001320274.2:c.53T>C, NM_001320274.1:c.53T>C, NP_112227.1:p.Met18Thr, NP_001307202.1:p.Met18Thr, NP_001307203.1:p.Met18Thr

Select item 14633371166.

rs1463337116 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:76868702 (GRCh38)
1:77334387 (GRCh37)
Canonical SPDI:: NC_000001.11:76868701:C:A,NC_000001.11:76868701:C:T
Gene:: ST6GALNAC5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.76868702C>A, NC_000001.11:g.76868702C>T, NC_000001.10:g.77334387C>A, NC_000001.10:g.77334387C>T, NM_030965.3:c.221C>A, NM_030965.3:c.221C>T, NM_030965.2:c.221C>A, NM_030965.2:c.221C>T, NM_030965.1:c.221C>A, NM_030965.1:c.221C>T, NM_001320273.2:c.221C>A, NM_001320273.2:c.221C>T, NM_001320273.1:c.221C>A, NM_001320273.1:c.221C>T, NM_001320274.2:c.221C>A, NM_001320274.2:c.221C>T, NM_001320274.1:c.221C>A, NM_001320274.1:c.221C>T, NP_112227.1:p.Pro74Gln, NP_112227.1:p.Pro74Leu, NP_001307202.1:p.Pro74Gln, NP_001307202.1:p.Pro74Leu, NP_001307203.1:p.Pro74Gln, NP_001307203.1:p.Pro74Leu

Select item 14632195237.

rs1463219523 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:76868553 (GRCh38)
1:77334238 (GRCh37)
Canonical SPDI:: NC_000001.11:76868552:A:G
Gene:: ST6GALNAC5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000001.11:g.76868553A>G, NC_000001.10:g.77334238A>G, NM_030965.3:c.72A>G, NM_030965.2:c.72A>G, NM_030965.1:c.72A>G, NM_001320273.2:c.72A>G, NM_001320273.1:c.72A>G, NM_001320274.2:c.72A>G, NM_001320274.1:c.72A>G

Select item 14550690758.

rs1455069075 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAGCAGCAGCAACAGCAGCAGCAG>- [Show Flanks]
Chromosome:: 1:76868605 (GRCh38)
1:77334290 (GRCh37)
Canonical SPDI:: NC_000001.11:76868592:CAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAG:CAGCAGCAGCAG
Gene:: ST6GALNAC5 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: CAGCAGCAGCAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.76868605_76868628del, NC_000001.10:g.77334290_77334313del, NM_030965.3:c.124_147del, NM_030965.2:c.124_147del, NM_030965.1:c.124_147del, NM_001320273.2:c.124_147del, NM_001320273.1:c.124_147del, NM_001320274.2:c.124_147del, NM_001320274.1:c.124_147del, NP_112227.1:p.Gln42_Gln49del, NP_001307202.1:p.Gln42_Gln49del, NP_001307203.1:p.Gln42_Gln49del

Select item 14504893349.

rs1450489334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:76868596 (GRCh38)
1:77334281 (GRCh37)
Canonical SPDI:: NC_000001.11:76868595:C:A
Gene:: ST6GALNAC5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.76868596C>A, NC_000001.10:g.77334281C>A, NM_030965.3:c.115C>A, NM_030965.2:c.115C>A, NM_030965.1:c.115C>A, NM_001320273.2:c.115C>A, NM_001320273.1:c.115C>A, NM_001320274.2:c.115C>A, NM_001320274.1:c.115C>A, NP_112227.1:p.Gln39Lys, NP_001307202.1:p.Gln39Lys, NP_001307203.1:p.Gln39Lys

Select item 142717980010.

rs1427179800 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:77062980 (GRCh38)
1:77528665 (GRCh37)
Canonical SPDI:: NC_000001.11:77062979:C:A
Gene:: ST6GALNAC5 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
HGVS:: NC_000001.11:g.77062980C>A, NC_000001.10:g.77528665C>A, NM_030965.3:c.785C>A, NM_030965.2:c.785C>A, NM_030965.1:c.785C>A, NM_001320273.2:c.*48C>A, NM_001320273.1:c.*48C>A, NM_001320274.2:c.267C>A, NM_001320274.1:c.267C>A, NP_112227.1:p.Pro262His

Select item 141105377711.

rs1411053777 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:76868505 (GRCh38)
1:77334190 (GRCh37)
Canonical SPDI:: NC_000001.11:76868504:T:C
Gene:: ST6GALNAC5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.76868505T>C, NC_000001.10:g.77334190T>C, NM_030965.3:c.24T>C, NM_030965.2:c.24T>C, NM_030965.1:c.24T>C, NM_001320273.2:c.24T>C, NM_001320273.1:c.24T>C, NM_001320274.2:c.24T>C, NM_001320274.1:c.24T>C

Select item 140393795612.

rs1403937956 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:76868640 (GRCh38)
1:77334325 (GRCh37)
Canonical SPDI:: NC_000001.11:76868639:C:A
Gene:: ST6GALNAC5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.76868640C>A, NC_000001.10:g.77334325C>A, NM_030965.3:c.159C>A, NM_030965.2:c.159C>A, NM_030965.1:c.159C>A, NM_001320273.2:c.159C>A, NM_001320273.1:c.159C>A, NM_001320274.2:c.159C>A, NM_001320274.1:c.159C>A

Select item 140184777613.

rs1401847776 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:76868730 (GRCh38)
1:77334415 (GRCh37)
Canonical SPDI:: NC_000001.11:76868729:G:A,NC_000001.11:76868729:G:T
Gene:: ST6GALNAC5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.76868730G>A, NC_000001.11:g.76868730G>T, NC_000001.10:g.77334415G>A, NC_000001.10:g.77334415G>T, NM_030965.3:c.249G>A, NM_030965.3:c.249G>T, NM_030965.2:c.249G>A, NM_030965.2:c.249G>T, NM_030965.1:c.249G>A, NM_030965.1:c.249G>T, NM_001320273.2:c.249G>A, NM_001320273.2:c.249G>T, NM_001320273.1:c.249G>A, NM_001320273.1:c.249G>T, NM_001320274.2:c.249G>A, NM_001320274.2:c.249G>T, NM_001320274.1:c.249G>A, NM_001320274.1:c.249G>T

Select item 138870597614.

rs1388705976 has merged into rs113832855 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCAGCAGCAGCAGCAGCAGCA>-,GCAGCAGCA,GCAGCAGCAGCA,GCAGCAGCAGCAGCA,GCAGCAGCAGCAGCAGCA,GCAGCAGCAGCAGCAGCAGCAGCA,GCAGCAGCAGCAGCAGCAGCAGCAGCA,GCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA [Show Flanks]
Chromosome:: 1:76868595 (GRCh38)
1:77334280 (GRCh37)
Canonical SPDI:: NC_000001.11:76868591:GCAGCAGCAGCAGCAGCAGCAGCA:GCA,NC_000001.11:76868591:GCAGCAGCAGCAGCAGCAGCAGCA:GCAGCAGCAGCA,NC_000001.11:76868591:GCAGCAGCAGCAGCAGCAGCAGCA:GCAGCAGCAGCAGCA,NC_000001.11:76868591:GCAGCAGCAGCAGCAGCAGCAGCA:GCAGCAGCAGCAGCAGCA,NC_000001.11:76868591:GCAGCAGCAGCAGCAGCAGCAGCA:GCAGCAGCAGCAGCAGCAGCA,NC_000001.11:76868591:GCAGCAGCAGCAGCAGCAGCAGCA:GCAGCAGCAGCAGCAGCAGCAGCAGCA,NC_000001.11:76868591:GCAGCAGCAGCAGCAGCAGCAGCA:GCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,NC_000001.11:76868591:GCAGCAGCAGCAGCAGCAGCAGCA:GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,NC_000001.11:76868591:GCAGCAGCAGCAGCAGCAGCAGCA:GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,NC_000001.11:76868591:GCAGCAGCAGCAGCAGCAGCAGCA:GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
Gene:: ST6GALNAC5 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA=0./0 (ALFA)
GCA=0.00167/1 (NorthernSweden)
HGVS:: NC_000001.11:g.76868592GCA[1], NC_000001.11:g.76868592GCA[4], NC_000001.11:g.76868592GCA[5], NC_000001.11:g.76868592GCA[6], NC_000001.11:g.76868592GCA[7], NC_000001.11:g.76868592GCA[9], NC_000001.11:g.76868592GCA[10], NC_000001.11:g.76868592GCA[11], NC_000001.11:g.76868592GCA[12], NC_000001.11:g.76868592GCA[13], NC_000001.10:g.77334277GCA[1], NC_000001.10:g.77334277GCA[4], NC_000001.10:g.77334277GCA[5], NC_000001.10:g.77334277GCA[6], NC_000001.10:g.77334277GCA[7], NC_000001.10:g.77334277GCA[9], NC_000001.10:g.77334277GCA[10], NC_000001.10:g.77334277GCA[11], NC_000001.10:g.77334277GCA[12], NC_000001.10:g.77334277GCA[13], NM_030965.3:c.111GCA[1], NM_030965.3:c.111GCA[4], NM_030965.3:c.111GCA[5], NM_030965.3:c.111GCA[6], NM_030965.3:c.111GCA[7], NM_030965.3:c.111GCA[9], NM_030965.3:c.111GCA[10], NM_030965.3:c.111GCA[11], NM_030965.3:c.111GCA[12], NM_030965.3:c.111GCA[13], NM_030965.2:c.111GCA[1], NM_030965.2:c.111GCA[4], NM_030965.2:c.111GCA[5], NM_030965.2:c.111GCA[6], NM_030965.2:c.111GCA[7], NM_030965.2:c.111GCA[9], NM_030965.2:c.111GCA[10], NM_030965.2:c.111GCA[11], NM_030965.2:c.111GCA[12], NM_030965.2:c.111GCA[13], NM_030965.1:c.111GCA[1], NM_030965.1:c.111GCA[4], NM_030965.1:c.111GCA[5], NM_030965.1:c.111GCA[6], NM_030965.1:c.111GCA[7], NM_030965.1:c.111GCA[9], NM_030965.1:c.111GCA[10], NM_030965.1:c.111GCA[11], NM_030965.1:c.111GCA[12], NM_030965.1:c.111GCA[13], NM_001320273.2:c.111GCA[1], NM_001320273.2:c.111GCA[4], NM_001320273.2:c.111GCA[5], NM_001320273.2:c.111GCA[6], NM_001320273.2:c.111GCA[7], NM_001320273.2:c.111GCA[9], NM_001320273.2:c.111GCA[10], NM_001320273.2:c.111GCA[11], NM_001320273.2:c.111GCA[12], NM_001320273.2:c.111GCA[13], NM_001320273.1:c.111GCA[1], NM_001320273.1:c.111GCA[4], NM_001320273.1:c.111GCA[5], NM_001320273.1:c.111GCA[6], NM_001320273.1:c.111GCA[7], NM_001320273.1:c.111GCA[9], NM_001320273.1:c.111GCA[10], NM_001320273.1:c.111GCA[11], NM_001320273.1:c.111GCA[12], NM_001320273.1:c.111GCA[13], NM_001320274.2:c.111GCA[1], NM_001320274.2:c.111GCA[4], NM_001320274.2:c.111GCA[5], NM_001320274.2:c.111GCA[6], NM_001320274.2:c.111GCA[7], NM_001320274.2:c.111GCA[9], NM_001320274.2:c.111GCA[10], NM_001320274.2:c.111GCA[11], NM_001320274.2:c.111GCA[12], NM_001320274.2:c.111GCA[13], NM_001320274.1:c.111GCA[1], NM_001320274.1:c.111GCA[4], NM_001320274.1:c.111GCA[5], NM_001320274.1:c.111GCA[6], NM_001320274.1:c.111GCA[7], NM_001320274.1:c.111GCA[9], NM_001320274.1:c.111GCA[10], NM_001320274.1:c.111GCA[11], NM_001320274.1:c.111GCA[12], NM_001320274.1:c.111GCA[13], NP_112227.1:p.Gln43_Gln49del, NP_112227.1:p.Gln46_Gln49del, NP_112227.1:p.Gln47_Gln49del, NP_112227.1:p.Gln48_Gln49del, NP_112227.1:p.Gln49del, NP_112227.1:p.Gln49dup, NP_112227.1:p.Gln48_Gln49dup, NP_112227.1:p.Gln47_Gln49dup, NP_112227.1:p.Gln46_Gln49dup, NP_112227.1:p.Gln45_Gln49dup, NP_001307202.1:p.Gln43_Gln49del, NP_001307202.1:p.Gln46_Gln49del, NP_001307202.1:p.Gln47_Gln49del, NP_001307202.1:p.Gln48_Gln49del, NP_001307202.1:p.Gln49del, NP_001307202.1:p.Gln49dup, NP_001307202.1:p.Gln48_Gln49dup, NP_001307202.1:p.Gln47_Gln49dup, NP_001307202.1:p.Gln46_Gln49dup, NP_001307202.1:p.Gln45_Gln49dup, NP_001307203.1:p.Gln43_Gln49del, NP_001307203.1:p.Gln46_Gln49del, NP_001307203.1:p.Gln47_Gln49del, NP_001307203.1:p.Gln48_Gln49del, NP_001307203.1:p.Gln49del, NP_001307203.1:p.Gln49dup, NP_001307203.1:p.Gln48_Gln49dup, NP_001307203.1:p.Gln47_Gln49dup, NP_001307203.1:p.Gln46_Gln49dup, NP_001307203.1:p.Gln45_Gln49dup

Select item 138596343115.

rs1385963431 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:76868656 (GRCh38)
1:77334341 (GRCh37)
Canonical SPDI:: NC_000001.11:76868655:G:A
Gene:: ST6GALNAC5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.76868656G>A, NC_000001.10:g.77334341G>A, NM_030965.3:c.175G>A, NM_030965.2:c.175G>A, NM_030965.1:c.175G>A, NM_001320273.2:c.175G>A, NM_001320273.1:c.175G>A, NM_001320274.2:c.175G>A, NM_001320274.1:c.175G>A, NP_112227.1:p.Ala59Thr, NP_001307202.1:p.Ala59Thr, NP_001307203.1:p.Ala59Thr

Select item 136417184316.

rs1364171843 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:76867690 (GRCh38)
1:77333375 (GRCh37)
Canonical SPDI:: NC_000001.11:76867689:G:T
Gene:: ST6GALNAC5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.76867690G>T, NC_000001.10:g.77333375G>T, NM_030965.3:c.15G>T, NM_030965.2:c.15G>T, NM_030965.1:c.15G>T, NM_001320273.2:c.15G>T, NM_001320273.1:c.15G>T, NM_001320274.2:c.15G>T, NM_001320274.1:c.15G>T, NP_112227.1:p.Met5Ile, NP_001307202.1:p.Met5Ile, NP_001307203.1:p.Met5Ile

Select item 136387047017.

rs1363870470 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:76868627 (GRCh38)
1:77334312 (GRCh37)
Canonical SPDI:: NC_000001.11:76868626:A:C
Gene:: ST6GALNAC5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.76868627A>C, NC_000001.10:g.77334312A>C, NM_030965.3:c.146A>C, NM_030965.2:c.146A>C, NM_030965.1:c.146A>C, NM_001320273.2:c.146A>C, NM_001320273.1:c.146A>C, NM_001320274.2:c.146A>C, NM_001320274.1:c.146A>C, NP_112227.1:p.Gln49Pro, NP_001307202.1:p.Gln49Pro, NP_001307203.1:p.Gln49Pro

Select item 135517270718.

rs1355172707 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:76868584 (GRCh38)
1:77334269 (GRCh37)
Canonical SPDI:: NC_000001.11:76868583:C:A,NC_000001.11:76868583:C:T
Gene:: ST6GALNAC5 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.76868584C>A, NC_000001.11:g.76868584C>T, NC_000001.10:g.77334269C>A, NC_000001.10:g.77334269C>T, NM_030965.3:c.103C>A, NM_030965.3:c.103C>T, NM_030965.2:c.103C>A, NM_030965.2:c.103C>T, NM_030965.1:c.103C>A, NM_030965.1:c.103C>T, NM_001320273.2:c.103C>A, NM_001320273.2:c.103C>T, NM_001320273.1:c.103C>A, NM_001320273.1:c.103C>T, NM_001320274.2:c.103C>A, NM_001320274.2:c.103C>T, NM_001320274.1:c.103C>A, NM_001320274.1:c.103C>T, NP_112227.1:p.Arg35Trp, NP_001307202.1:p.Arg35Trp, NP_001307203.1:p.Arg35Trp

Select item 131194726519.

rs1311947265 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:76868581 (GRCh38)
1:77334266 (GRCh37)
Canonical SPDI:: NC_000001.11:76868580:G:A
Gene:: ST6GALNAC5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.76868581G>A, NC_000001.10:g.77334266G>A, NM_030965.3:c.100G>A, NM_030965.2:c.100G>A, NM_030965.1:c.100G>A, NM_001320273.2:c.100G>A, NM_001320273.1:c.100G>A, NM_001320274.2:c.100G>A, NM_001320274.1:c.100G>A, NP_112227.1:p.Glu34Lys, NP_001307202.1:p.Glu34Lys, NP_001307203.1:p.Glu34Lys

Select item 130759911620.

rs1307599116 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:76868657 (GRCh38)
1:77334342 (GRCh37)
Canonical SPDI:: NC_000001.11:76868656:C:A,NC_000001.11:76868656:C:T
Gene:: ST6GALNAC5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.00007/1 (ALFA)
HGVS:: NC_000001.11:g.76868657C>A, NC_000001.11:g.76868657C>T, NC_000001.10:g.77334342C>A, NC_000001.10:g.77334342C>T, NM_030965.3:c.176C>A, NM_030965.3:c.176C>T, NM_030965.2:c.176C>A, NM_030965.2:c.176C>T, NM_030965.1:c.176C>A, NM_030965.1:c.176C>T, NM_001320273.2:c.176C>A, NM_001320273.2:c.176C>T, NM_001320273.1:c.176C>A, NM_001320273.1:c.176C>T, NM_001320274.2:c.176C>A, NM_001320274.2:c.176C>T, NM_001320274.1:c.176C>A, NM_001320274.1:c.176C>T, NP_112227.1:p.Ala59Glu, NP_112227.1:p.Ala59Val, NP_001307202.1:p.Ala59Glu, NP_001307202.1:p.Ala59Val, NP_001307203.1:p.Ala59Glu, NP_001307203.1:p.Ala59Val

dbSNP

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