Canonical Allele Identifier: CA414207670
Gene: C1GALT1C1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120626501C>A , CM000685.2:g.120626501C>A GRCh38
NC_000023.10:g.119760356C>A , CM000685.1:g.119760356C>A GRCh37
NC_000023.9:g.119644384C>A NCBI36
NG_016219.1:g.8650G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.666G>T MANE Select ENSP00000304364.5:p.Gln222His
ENST00000304661.5:c.666G>T ENSP00000304364.5:p.Gln222His
ENST00000371313.2:c.666G>T ENSP00000360363.2:p.Gln222His
NM_001011551.2:c.666G>T NP_001011551.1:p.Gln222His
NM_152692.4:c.666G>T NP_689905.1:p.Gln222His
NM_001011551.3:c.666G>T MANE Select NP_001011551.1:p.Gln222His
NM_152692.5:c.666G>T NP_689905.1:p.Gln222His