Canonical Allele Identifier: CA431957272
Gene: UGT1A8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.234527103T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233618457T>A , CM000664.2:g.233618457T>A GRCh38
NC_000002.11:g.234527103T>A , CM000664.1:g.234527103T>A GRCh37
NC_000002.10:g.234191842T>A NCBI36
NG_002601.2:g.33714T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373450.5:c.750T>A MANE Select ENSP00000362549.4:p.Ile250=
ENST00000373450.4:c.750T>A ENSP00000362549.4:p.Ile250=
NM_019076.4:c.750T>A NP_061949.3:p.Ile250=
NM_019076.5:c.750T>A MANE Select NP_061949.3:p.Ile250=