Canonical Allele Identifier: CA351074302
Gene: UGT1A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233618555T>A , CM000664.2:g.233618555T>A GRCh38
NC_000002.11:g.234527201T>A , CM000664.1:g.234527201T>A GRCh37
NC_000002.10:g.234191940T>A NCBI36
NG_002601.2:g.33812T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373450.5:c.848T>A MANE Select ENSP00000362549.4:p.Leu283Ter
ENST00000373450.4:c.848T>A ENSP00000362549.4:p.Leu283Ter
NM_019076.4:c.848T>A NP_061949.3:p.Leu283Ter
NM_019076.5:c.848T>A MANE Select NP_061949.3:p.Leu283Ter