Canonical Allele Identifier: CA2694604468

Gene: C1GALT1C1

Linked Data

• gnomAD v4: X-120627242-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120627242C>A , CM000685.2:g.120627242C>A	GRCh38
NC_000023.10:g.119761097C>A , CM000685.1:g.119761097C>A	GRCh37
NC_000023.9:g.119645125C>A	NCBI36
NG_016219.1:g.7909G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.-5-71G>T MANE Select	ENSP00000304364.5:n.-5-71G>T
ENST00000304661.5:c.-5-71G>T	ENSP00000304364.5:n.-5-71G>T
ENST00000371313.2:c.-6+14G>T	ENSP00000360363.2:n.-6+14G>T
NM_001011551.2:c.-5-71G>T	NP_001011551.1:n.-5-71G>T
NM_152692.4:c.-6+14G>T	NP_689905.1:n.-6+14G>T
NM_001011551.3:c.-5-71G>T MANE Select	NP_001011551.1:n.-5-71G>T
NM_152692.5:c.-6+14G>T	NP_689905.1:n.-6+14G>T