Canonical Allele Identifier: CA414207244

Gene: C1GALT1C1

Linked Data

• MyVariant Identifiers: chrX:g.119760295T>G (hg19) ; chrX:g.120626440T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120626440T>G , CM000685.2:g.120626440T>G	GRCh38
NC_000023.10:g.119760295T>G , CM000685.1:g.119760295T>G	GRCh37
NC_000023.9:g.119644323T>G	NCBI36
NG_016219.1:g.8711A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.727A>C MANE Select	ENSP00000304364.5:p.Lys243Gln
ENST00000304661.5:c.727A>C	ENSP00000304364.5:p.Lys243Gln
ENST00000371313.2:c.727A>C	ENSP00000360363.2:p.Lys243Gln
NM_001011551.2:c.727A>C	NP_001011551.1:p.Lys243Gln
NM_152692.4:c.727A>C	NP_689905.1:p.Lys243Gln
NM_001011551.3:c.727A>C MANE Select	NP_001011551.1:p.Lys243Gln
NM_152692.5:c.727A>C	NP_689905.1:p.Lys243Gln