Canonical Allele Identifier: CA2454931024

Gene: C1GALT1C1

Linked Data

• dbSNP Id: rs1927208312

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120627169T>G , CM000685.2:g.120627169T>G	GRCh38
NC_000023.10:g.119761024T>G , CM000685.1:g.119761024T>G	GRCh37
NC_000023.9:g.119645052T>G	NCBI36
NG_016219.1:g.7982A>C

Transcript Alleles

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