Canonical Allele Identifier: CA2504521671

Gene: C1GALT1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120627190C>T , CM000685.2:g.120627190C>T	GRCh38
NC_000023.10:g.119761045C>T , CM000685.1:g.119761045C>T	GRCh37
NC_000023.9:g.119645073C>T	NCBI36
NG_016219.1:g.7961G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.-5-19G>A MANE Select	ENSP00000304364.5:n.-5-19G>A
ENST00000304661.5:c.-5-19G>A	ENSP00000304364.5:n.-5-19G>A
ENST00000371313.2:c.-5-19G>A	ENSP00000360363.2:n.-5-19G>A
NM_001011551.2:c.-5-19G>A	NP_001011551.1:n.-5-19G>A
NM_152692.4:c.-5-19G>A	NP_689905.1:n.-5-19G>A
NM_001011551.3:c.-5-19G>A MANE Select	NP_001011551.1:n.-5-19G>A
NM_152692.5:c.-5-19G>A	NP_689905.1:n.-5-19G>A