Canonical Allele Identifier: CA351073410
Gene: UGT1A8 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000373450.5:c.739C>G MANE Select ENSP00000362549.4:p.His247Asp
ENST00000373450.4:c.739C>G ENSP00000362549.4:p.His247Asp
NM_019076.4:c.739C>G NP_061949.3:p.His247Asp
NM_019076.5:c.739C>G MANE Select NP_061949.3:p.His247Asp