Canonical Allele Identifier: CA351073446
Gene: UGT1A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233618452T>A , CM000664.2:g.233618452T>A GRCh38
NC_000002.11:g.234527098T>A , CM000664.1:g.234527098T>A GRCh37
NC_000002.10:g.234191837T>A NCBI36
NG_002601.2:g.33709T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373450.5:c.745T>A MANE Select ENSP00000362549.4:p.Ser249Thr
ENST00000373450.4:c.745T>A ENSP00000362549.4:p.Ser249Thr
NM_019076.4:c.745T>A NP_061949.3:p.Ser249Thr
NM_019076.5:c.745T>A MANE Select NP_061949.3:p.Ser249Thr