Canonical Allele Identifier: CA351074322
Gene: UGT1A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233618558C>A , CM000664.2:g.233618558C>A GRCh38
NC_000002.11:g.234527204C>A , CM000664.1:g.234527204C>A GRCh37
NC_000002.10:g.234191943C>A NCBI36
NG_002601.2:g.33815C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373450.5:c.851C>A MANE Select ENSP00000362549.4:p.Pro284His
ENST00000373450.4:c.851C>A ENSP00000362549.4:p.Pro284His
NM_019076.4:c.851C>A NP_061949.3:p.Pro284His
NM_019076.5:c.851C>A MANE Select NP_061949.3:p.Pro284His