Canonical Allele Identifier: CA10506010
Gene: C1GALT1C1 HGNC NCBI

Linked Data

dbSNP Id: rs767099961
ExAC: X:119761006 T / C
gnomAD v2: X-119761006-T-C
gnomAD v4: X-120627151-T-C
MyVariant Identifiers: chrX:g.119761006T>C (hg19) chrX:g.120627151T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120627151T>C , CM000685.2:g.120627151T>C GRCh38
NC_000023.10:g.119761006T>C , CM000685.1:g.119761006T>C GRCh37
NC_000023.9:g.119645034T>C NCBI36
NG_016219.1:g.8000A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.16A>G MANE Select ENSP00000304364.5:p.Ser6Gly
ENST00000304661.5:c.16A>G ENSP00000304364.5:p.Ser6Gly
ENST00000371313.2:c.16A>G ENSP00000360363.2:p.Ser6Gly
NM_001011551.2:c.16A>G NP_001011551.1:p.Ser6Gly
NM_152692.4:c.16A>G NP_689905.1:p.Ser6Gly
NM_001011551.3:c.16A>G MANE Select NP_001011551.1:p.Ser6Gly
NM_152692.5:c.16A>G NP_689905.1:p.Ser6Gly
Search 100 bp 5'
Search 100 bp 3'