Canonical Allele Identifier: CA414211031
Gene: C1GALT1C1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120627162A>C , CM000685.2:g.120627162A>C GRCh38
NC_000023.10:g.119761017A>C , CM000685.1:g.119761017A>C GRCh37
NC_000023.9:g.119645045A>C NCBI36
NG_016219.1:g.7989T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.5T>G MANE Select ENSP00000304364.5:p.Leu2Arg
ENST00000304661.5:c.5T>G ENSP00000304364.5:p.Leu2Arg
ENST00000371313.2:c.5T>G ENSP00000360363.2:p.Leu2Arg
NM_001011551.2:c.5T>G NP_001011551.1:p.Leu2Arg
NM_152692.4:c.5T>G NP_689905.1:p.Leu2Arg
NM_001011551.3:c.5T>G MANE Select NP_001011551.1:p.Leu2Arg
NM_152692.5:c.5T>G NP_689905.1:p.Leu2Arg