Canonical Allele Identifier: CA431957566
Gene: UGT1A8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.234527202G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233618556G>A , CM000664.2:g.233618556G>A GRCh38
NC_000002.11:g.234527202G>A , CM000664.1:g.234527202G>A GRCh37
NC_000002.10:g.234191941G>A NCBI36
NG_002601.2:g.33813G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373450.5:c.849G>A MANE Select ENSP00000362549.4:p.Leu283=
ENST00000373450.4:c.849G>A ENSP00000362549.4:p.Leu283=
NM_019076.4:c.849G>A NP_061949.3:p.Leu283=
NM_019076.5:c.849G>A MANE Select NP_061949.3:p.Leu283=