Canonical Allele Identifier: CA351073374
Gene: UGT1A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233618443A>T , CM000664.2:g.233618443A>T GRCh38
NC_000002.11:g.234527089A>T , CM000664.1:g.234527089A>T GRCh37
NC_000002.10:g.234191828A>T NCBI36
NG_002601.2:g.33700A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000373450.5:c.736A>T MANE Select ENSP00000362549.4:p.Ser246Cys
ENST00000373450.4:c.736A>T ENSP00000362549.4:p.Ser246Cys
NM_019076.4:c.736A>T NP_061949.3:p.Ser246Cys
NM_019076.5:c.736A>T MANE Select NP_061949.3:p.Ser246Cys