Canonical Allele Identifier: CA67603743

Gene: UGT1A8

Linked Data

• dbSNP Id: rs1001456865
• gnomAD v2: 2-234527091-C-A
• gnomAD v4: 2-233618445-C-A
• MyVariant Identifiers: chr2:g.234527091C>A (hg19) ; chr2:g.233618445C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233618445C>A , CM000664.2:g.233618445C>A	GRCh38
NC_000002.11:g.234527091C>A , CM000664.1:g.234527091C>A	GRCh37
NC_000002.10:g.234191830C>A	NCBI36
NG_002601.2:g.33702C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373450.5:c.738C>A MANE Select	ENSP00000362549.4:p.Ser246Arg
ENST00000373450.4:c.738C>A	ENSP00000362549.4:p.Ser246Arg
NM_019076.4:c.738C>A	NP_061949.3:p.Ser246Arg
NM_019076.5:c.738C>A MANE Select	NP_061949.3:p.Ser246Arg