Canonical Allele Identifier: CA2579693217

Gene: C1GALT1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120627235T>C , CM000685.2:g.120627235T>C	GRCh38
NC_000023.10:g.119761090T>C , CM000685.1:g.119761090T>C	GRCh37
NC_000023.9:g.119645118T>C	NCBI36
NG_016219.1:g.7916A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.-5-64A>G MANE Select	ENSP00000304364.5:n.-5-64A>G
ENST00000304661.5:c.-5-64A>G	ENSP00000304364.5:n.-5-64A>G
ENST00000371313.2:c.-6+21A>G	ENSP00000360363.2:n.-6+21A>G
NM_001011551.2:c.-5-64A>G	NP_001011551.1:n.-5-64A>G
NM_152692.4:c.-6+21A>G	NP_689905.1:n.-6+21A>G
NM_001011551.3:c.-5-64A>G MANE Select	NP_001011551.1:n.-5-64A>G
NM_152692.5:c.-6+21A>G	NP_689905.1:n.-6+21A>G