Canonical Allele Identifier: CA2177634

Gene: UGT1A8

Linked Data

• dbSNP Id: rs143085154
• ExAC: 2:234527146 G / A
• gnomAD v2: 2-234527146-G-A
• gnomAD v3: 2-233618500-G-A
• gnomAD v4: 2-233618500-G-A
• MyVariant Identifiers: chr2:g.234527146G>A (hg19) ; chr2:g.233618500G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233618500G>A , CM000664.2:g.233618500G>A	GRCh38
NC_000002.11:g.234527146G>A , CM000664.1:g.234527146G>A	GRCh37
NC_000002.10:g.234191885G>A	NCBI36
NG_002601.2:g.33757G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373450.5:c.793G>A MANE Select	ENSP00000362549.4:p.Val265Met
ENST00000373450.4:c.793G>A	ENSP00000362549.4:p.Val265Met
NM_019076.4:c.793G>A	NP_061949.3:p.Val265Met
NM_019076.5:c.793G>A MANE Select	NP_061949.3:p.Val265Met