Canonical Allele Identifier: CA351073404
Gene: UGT1A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233618446C>T , CM000664.2:g.233618446C>T GRCh38
NC_000002.11:g.234527092C>T , CM000664.1:g.234527092C>T GRCh37
NC_000002.10:g.234191831C>T NCBI36
NG_002601.2:g.33703C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373450.5:c.739C>T MANE Select ENSP00000362549.4:p.His247Tyr
ENST00000373450.4:c.739C>T ENSP00000362549.4:p.His247Tyr
NM_019076.4:c.739C>T NP_061949.3:p.His247Tyr
NM_019076.5:c.739C>T MANE Select NP_061949.3:p.His247Tyr