Canonical Allele Identifier: CA414208069
Gene: C1GALT1C1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120626584T>C , CM000685.2:g.120626584T>C GRCh38
NC_000023.10:g.119760439T>C , CM000685.1:g.119760439T>C GRCh37
NC_000023.9:g.119644467T>C NCBI36
NG_016219.1:g.8567A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.583A>G MANE Select ENSP00000304364.5:p.Lys195Glu
ENST00000304661.5:c.583A>G ENSP00000304364.5:p.Lys195Glu
ENST00000371313.2:c.583A>G ENSP00000360363.2:p.Lys195Glu
NM_001011551.2:c.583A>G NP_001011551.1:p.Lys195Glu
NM_152692.4:c.583A>G NP_689905.1:p.Lys195Glu
NM_001011551.3:c.583A>G MANE Select NP_001011551.1:p.Lys195Glu
NM_152692.5:c.583A>G NP_689905.1:p.Lys195Glu