Canonical Allele Identifier: CA2454931026
Gene: C1GALT1C1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120627175T= , CM000685.2:g.120627175T= GRCh38
NC_000023.10:g.119761030T= , CM000685.1:g.119761030T= GRCh37
NC_000023.9:g.119645058T= NCBI36
NG_016219.1:g.7976A=

Transcript Alleles

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