Canonical Allele Identifier: CA2823267505

Gene: C1GALT1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120627206T>G , CM000685.2:g.120627206T>G	GRCh38
NC_000023.10:g.119761061T>G , CM000685.1:g.119761061T>G	GRCh37
NC_000023.9:g.119645089T>G	NCBI36
NG_016219.1:g.7945A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.-5-35A>C MANE Select	ENSP00000304364.5:n.-5-35A>C
ENST00000304661.5:c.-5-35A>C	ENSP00000304364.5:n.-5-35A>C
ENST00000371313.2:c.-5-35A>C	ENSP00000360363.2:n.-5-35A>C
NM_001011551.2:c.-5-35A>C	NP_001011551.1:n.-5-35A>C
NM_152692.4:c.-5-35A>C	NP_689905.1:n.-5-35A>C
NM_001011551.3:c.-5-35A>C MANE Select	NP_001011551.1:n.-5-35A>C
NM_152692.5:c.-5-35A>C	NP_689905.1:n.-5-35A>C