Canonical Allele Identifier: CA351073421
Gene: UGT1A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233618447A>T , CM000664.2:g.233618447A>T GRCh38
NC_000002.11:g.234527093A>T , CM000664.1:g.234527093A>T GRCh37
NC_000002.10:g.234191832A>T NCBI36
NG_002601.2:g.33704A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373450.5:c.740A>T MANE Select ENSP00000362549.4:p.His247Leu
ENST00000373450.4:c.740A>T ENSP00000362549.4:p.His247Leu
NM_019076.4:c.740A>T NP_061949.3:p.His247Leu
NM_019076.5:c.740A>T MANE Select NP_061949.3:p.His247Leu