Canonical Allele Identifier: CA351073489
Gene: UGT1A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233618457T>G , CM000664.2:g.233618457T>G GRCh38
NC_000002.11:g.234527103T>G , CM000664.1:g.234527103T>G GRCh37
NC_000002.10:g.234191842T>G NCBI36
NG_002601.2:g.33714T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373450.5:c.750T>G MANE Select ENSP00000362549.4:p.Ile250Met
ENST00000373450.4:c.750T>G ENSP00000362549.4:p.Ile250Met
NM_019076.4:c.750T>G NP_061949.3:p.Ile250Met
NM_019076.5:c.750T>G MANE Select NP_061949.3:p.Ile250Met