Canonical Allele Identifier: CA2694604461

Gene: C1GALT1C1

Linked Data

• gnomAD v4: X-120627231-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120627231G>T , CM000685.2:g.120627231G>T	GRCh38
NC_000023.10:g.119761086G>T , CM000685.1:g.119761086G>T	GRCh37
NC_000023.9:g.119645114G>T	NCBI36
NG_016219.1:g.7920C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.-5-60C>A MANE Select	ENSP00000304364.5:n.-5-60C>A
ENST00000304661.5:c.-5-60C>A	ENSP00000304364.5:n.-5-60C>A
ENST00000371313.2:c.-6+25C>A	ENSP00000360363.2:n.-6+25C>A
NM_001011551.2:c.-5-60C>A	NP_001011551.1:n.-5-60C>A
NM_152692.4:c.-6+25C>A	NP_689905.1:n.-6+25C>A
NM_001011551.3:c.-5-60C>A MANE Select	NP_001011551.1:n.-5-60C>A
NM_152692.5:c.-6+25C>A	NP_689905.1:n.-6+25C>A