Canonical Allele Identifier: CA351073363
Gene: UGT1A8 HGNC NCBI

Linked Data

dbSNP Id: rs2072943446
gnomAD v3: 2-233618443-A-G
gnomAD v4: 2-233618443-A-G
MyVariant Identifiers: chr2:g.234527089A>G (hg19) chr2:g.233618443A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233618443A>G , CM000664.2:g.233618443A>G GRCh38
NC_000002.11:g.234527089A>G , CM000664.1:g.234527089A>G GRCh37
NC_000002.10:g.234191828A>G NCBI36
NG_002601.2:g.33700A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373450.5:c.736A>G MANE Select ENSP00000362549.4:p.Ser246Gly
ENST00000373450.4:c.736A>G ENSP00000362549.4:p.Ser246Gly
NM_019076.4:c.736A>G NP_061949.3:p.Ser246Gly
NM_019076.5:c.736A>G MANE Select NP_061949.3:p.Ser246Gly
Search 100 bp 5'
Search 100 bp 3'