Canonical Allele Identifier: CA518448602

Gene: C1GALT1C1

Linked Data

• MyVariant Identifiers: chrX:g.119760443T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120626588T>C , CM000685.2:g.120626588T>C	GRCh38
NC_000023.10:g.119760443T>C , CM000685.1:g.119760443T>C	GRCh37
NC_000023.9:g.119644471T>C	NCBI36
NG_016219.1:g.8563A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.579A>G MANE Select	ENSP00000304364.5:p.Ser193=
ENST00000304661.5:c.579A>G	ENSP00000304364.5:p.Ser193=
ENST00000371313.2:c.579A>G	ENSP00000360363.2:p.Ser193=
NM_001011551.2:c.579A>G	NP_001011551.1:p.Ser193=
NM_152692.4:c.579A>G	NP_689905.1:p.Ser193=
NM_001011551.3:c.579A>G MANE Select	NP_001011551.1:p.Ser193=
NM_152692.5:c.579A>G	NP_689905.1:p.Ser193=