Canonical Allele Identifier: CA2823267491

Gene: C1GALT1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120627191T>A , CM000685.2:g.120627191T>A	GRCh38
NC_000023.10:g.119761046T>A , CM000685.1:g.119761046T>A	GRCh37
NC_000023.9:g.119645074T>A	NCBI36
NG_016219.1:g.7960A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.-5-20A>T MANE Select	ENSP00000304364.5:n.-5-20A>T
ENST00000304661.5:c.-5-20A>T	ENSP00000304364.5:n.-5-20A>T
ENST00000371313.2:c.-5-20A>T	ENSP00000360363.2:n.-5-20A>T
NM_001011551.2:c.-5-20A>T	NP_001011551.1:n.-5-20A>T
NM_152692.4:c.-5-20A>T	NP_689905.1:n.-5-20A>T
NM_001011551.3:c.-5-20A>T MANE Select	NP_001011551.1:n.-5-20A>T
NM_152692.5:c.-5-20A>T	NP_689905.1:n.-5-20A>T