Canonical Allele Identifier: CA414209870
Gene: C1GALT1C1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120626952A>C , CM000685.2:g.120626952A>C GRCh38
NC_000023.10:g.119760807A>C , CM000685.1:g.119760807A>C GRCh37
NC_000023.9:g.119644835A>C NCBI36
NG_016219.1:g.8199T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.215T>G MANE Select ENSP00000304364.5:p.Ile72Ser
ENST00000304661.5:c.215T>G ENSP00000304364.5:p.Ile72Ser
ENST00000371313.2:c.215T>G ENSP00000360363.2:p.Ile72Ser
NM_001011551.2:c.215T>G NP_001011551.1:p.Ile72Ser
NM_152692.4:c.215T>G NP_689905.1:p.Ile72Ser
NM_001011551.3:c.215T>G MANE Select NP_001011551.1:p.Ile72Ser
NM_152692.5:c.215T>G NP_689905.1:p.Ile72Ser