Canonical Allele Identifier: CA414208043
Gene: C1GALT1C1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120626578G>T , CM000685.2:g.120626578G>T GRCh38
NC_000023.10:g.119760433G>T , CM000685.1:g.119760433G>T GRCh37
NC_000023.9:g.119644461G>T NCBI36
NG_016219.1:g.8573C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.589C>A MANE Select ENSP00000304364.5:p.Leu197Ile
ENST00000304661.5:c.589C>A ENSP00000304364.5:p.Leu197Ile
ENST00000371313.2:c.589C>A ENSP00000360363.2:p.Leu197Ile
NM_001011551.2:c.589C>A NP_001011551.1:p.Leu197Ile
NM_152692.4:c.589C>A NP_689905.1:p.Leu197Ile
NM_001011551.3:c.589C>A MANE Select NP_001011551.1:p.Leu197Ile
NM_152692.5:c.589C>A NP_689905.1:p.Leu197Ile