Canonical Allele Identifier: CA351074209
Gene: UGT1A8 HGNC NCBI

Linked Data

dbSNP Id: rs1245037320
gnomAD v2: 2-234527191-G-A
COSMIC: COSM4405047
MyVariant Identifiers: chr2:g.234527191G>A (hg19) chr2:g.233618545G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233618545G>A , CM000664.2:g.233618545G>A GRCh38
NC_000002.11:g.234527191G>A , CM000664.1:g.234527191G>A GRCh37
NC_000002.10:g.234191930G>A NCBI36
NG_002601.2:g.33802G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373450.5:c.838G>A MANE Select ENSP00000362549.4:p.Gly280Arg
ENST00000373450.4:c.838G>A ENSP00000362549.4:p.Gly280Arg
NM_019076.4:c.838G>A NP_061949.3:p.Gly280Arg
NM_019076.5:c.838G>A MANE Select NP_061949.3:p.Gly280Arg
Search 100 bp 5'
Search 100 bp 3'