Canonical Allele Identifier: CA351073412
Gene: UGT1A8 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000373450.5:c.740A>C MANE Select ENSP00000362549.4:p.His247Pro
ENST00000373450.4:c.740A>C ENSP00000362549.4:p.His247Pro
NM_019076.4:c.740A>C NP_061949.3:p.His247Pro
NM_019076.5:c.740A>C MANE Select NP_061949.3:p.His247Pro