Canonical Allele Identifier: CA351072696
Gene: UGT1A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233618370G>T , CM000664.2:g.233618370G>T GRCh38
NC_000002.11:g.234527016G>T , CM000664.1:g.234527016G>T GRCh37
NC_000002.10:g.234191755G>T NCBI36
NG_002601.2:g.33627G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373450.5:c.663G>T MANE Select ENSP00000362549.4:p.Gln221His
ENST00000373450.4:c.663G>T ENSP00000362549.4:p.Gln221His
NM_019076.4:c.663G>T NP_061949.3:p.Gln221His
NM_019076.5:c.663G>T MANE Select NP_061949.3:p.Gln221His