Canonical Allele Identifier: CA414207331

Gene: C1GALT1C1

Linked Data

• MyVariant Identifiers: chrX:g.119760306T>A (hg19) ; chrX:g.120626451T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120626451T>A , CM000685.2:g.120626451T>A	GRCh38
NC_000023.10:g.119760306T>A , CM000685.1:g.119760306T>A	GRCh37
NC_000023.9:g.119644334T>A	NCBI36
NG_016219.1:g.8700A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.716A>T MANE Select	ENSP00000304364.5:p.Asp239Val
ENST00000304661.5:c.716A>T	ENSP00000304364.5:p.Asp239Val
ENST00000371313.2:c.716A>T	ENSP00000360363.2:p.Asp239Val
NM_001011551.2:c.716A>T	NP_001011551.1:p.Asp239Val
NM_152692.4:c.716A>T	NP_689905.1:p.Asp239Val
NM_001011551.3:c.716A>T MANE Select	NP_001011551.1:p.Asp239Val
NM_152692.5:c.716A>T	NP_689905.1:p.Asp239Val