Canonical Allele Identifier: CA414208281

Gene: C1GALT1C1

Linked Data

• MyVariant Identifiers: chrX:g.119760484A>T (hg19) ; chrX:g.120626629A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120626629A>T , CM000685.2:g.120626629A>T	GRCh38
NC_000023.10:g.119760484A>T , CM000685.1:g.119760484A>T	GRCh37
NC_000023.9:g.119644512A>T	NCBI36
NG_016219.1:g.8522T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.538T>A MANE Select	ENSP00000304364.5:p.Tyr180Asn
ENST00000304661.5:c.538T>A	ENSP00000304364.5:p.Tyr180Asn
ENST00000371313.2:c.538T>A	ENSP00000360363.2:p.Tyr180Asn
NM_001011551.2:c.538T>A	NP_001011551.1:p.Tyr180Asn
NM_152692.4:c.538T>A	NP_689905.1:p.Tyr180Asn
NM_001011551.3:c.538T>A MANE Select	NP_001011551.1:p.Tyr180Asn
NM_152692.5:c.538T>A	NP_689905.1:p.Tyr180Asn