Canonical Allele Identifier: CA2694604456

Gene: C1GALT1C1

Linked Data

• gnomAD v4: X-120627216-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120627216T>G , CM000685.2:g.120627216T>G	GRCh38
NC_000023.10:g.119761071T>G , CM000685.1:g.119761071T>G	GRCh37
NC_000023.9:g.119645099T>G	NCBI36
NG_016219.1:g.7935A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.-5-45A>C MANE Select	ENSP00000304364.5:n.-5-45A>C
ENST00000304661.5:c.-5-45A>C	ENSP00000304364.5:n.-5-45A>C
ENST00000371313.2:c.-6+40A>C	ENSP00000360363.2:n.-6+40A>C
NM_001011551.2:c.-5-45A>C	NP_001011551.1:n.-5-45A>C
NM_152692.4:c.-6+40A>C	NP_689905.1:n.-6+40A>C
NM_001011551.3:c.-5-45A>C MANE Select	NP_001011551.1:n.-5-45A>C
NM_152692.5:c.-6+40A>C	NP_689905.1:n.-6+40A>C