Canonical Allele Identifier: CA414211044

Gene: C1GALT1C1

Linked Data

• MyVariant Identifiers: chrX:g.119761018G>T (hg19) ; chrX:g.120627163G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120627163G>T , CM000685.2:g.120627163G>T	GRCh38
NC_000023.10:g.119761018G>T , CM000685.1:g.119761018G>T	GRCh37
NC_000023.9:g.119645046G>T	NCBI36
NG_016219.1:g.7988C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.4C>A MANE Select	ENSP00000304364.5:p.Leu2Ile
ENST00000304661.5:c.4C>A	ENSP00000304364.5:p.Leu2Ile
ENST00000371313.2:c.4C>A	ENSP00000360363.2:p.Leu2Ile
NM_001011551.2:c.4C>A	NP_001011551.1:p.Leu2Ile
NM_152692.4:c.4C>A	NP_689905.1:p.Leu2Ile
NM_001011551.3:c.4C>A MANE Select	NP_001011551.1:p.Leu2Ile
NM_152692.5:c.4C>A	NP_689905.1:p.Leu2Ile