Canonical Allele Identifier: CA414207748
Gene: C1GALT1C1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120626515A>G , CM000685.2:g.120626515A>G GRCh38
NC_000023.10:g.119760370A>G , CM000685.1:g.119760370A>G GRCh37
NC_000023.9:g.119644398A>G NCBI36
NG_016219.1:g.8636T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.652T>C MANE Select ENSP00000304364.5:p.Ser218Pro
ENST00000304661.5:c.652T>C ENSP00000304364.5:p.Ser218Pro
ENST00000371313.2:c.652T>C ENSP00000360363.2:p.Ser218Pro
NM_001011551.2:c.652T>C NP_001011551.1:p.Ser218Pro
NM_152692.4:c.652T>C NP_689905.1:p.Ser218Pro
NM_001011551.3:c.652T>C MANE Select NP_001011551.1:p.Ser218Pro
NM_152692.5:c.652T>C NP_689905.1:p.Ser218Pro