Canonical Allele Identifier: CA10506011

Gene: C1GALT1C1

Linked Data

• dbSNP Id: rs750063627
• ExAC: X:119761014 G / A
• gnomAD v2: X-119761014-G-A
• gnomAD v3: X-120627159-G-A
• gnomAD v4: X-120627159-G-A
• MyVariant Identifiers: chrX:g.119761014G>A (hg19) ; chrX:g.120627159G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120627159G>A , CM000685.2:g.120627159G>A	GRCh38
NC_000023.10:g.119761014G>A , CM000685.1:g.119761014G>A	GRCh37
NC_000023.9:g.119645042G>A	NCBI36
NG_016219.1:g.7992C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.8C>T MANE Select	ENSP00000304364.5:p.Ser3Phe
ENST00000304661.5:c.8C>T	ENSP00000304364.5:p.Ser3Phe
ENST00000371313.2:c.8C>T	ENSP00000360363.2:p.Ser3Phe
NM_001011551.2:c.8C>T	NP_001011551.1:p.Ser3Phe
NM_152692.4:c.8C>T	NP_689905.1:p.Ser3Phe
NM_001011551.3:c.8C>T MANE Select	NP_001011551.1:p.Ser3Phe
NM_152692.5:c.8C>T	NP_689905.1:p.Ser3Phe