Canonical Allele Identifier: CA351072854

Gene: UGT1A8

Linked Data

• dbSNP Id: rs1410118930
• gnomAD v2: 2-234527033-C-A
• gnomAD v4: 2-233618387-C-A
• MyVariant Identifiers: chr2:g.234527033C>A (hg19) ; chr2:g.233618387C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233618387C>A , CM000664.2:g.233618387C>A	GRCh38
NC_000002.11:g.234527033C>A , CM000664.1:g.234527033C>A	GRCh37
NC_000002.10:g.234191772C>A	NCBI36
NG_002601.2:g.33644C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373450.5:c.680C>A MANE Select	ENSP00000362549.4:p.Ala227Asp
ENST00000373450.4:c.680C>A	ENSP00000362549.4:p.Ala227Asp
NM_019076.4:c.680C>A	NP_061949.3:p.Ala227Asp
NM_019076.5:c.680C>A MANE Select	NP_061949.3:p.Ala227Asp