Canonical Allele Identifier: CA351073450
Gene: UGT1A8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.234527099C>A (hg19) chr2:g.233618453C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233618453C>A , CM000664.2:g.233618453C>A GRCh38
NC_000002.11:g.234527099C>A , CM000664.1:g.234527099C>A GRCh37
NC_000002.10:g.234191838C>A NCBI36
NG_002601.2:g.33710C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373450.5:c.746C>A MANE Select ENSP00000362549.4:p.Ser249Ter
ENST00000373450.4:c.746C>A ENSP00000362549.4:p.Ser249Ter
NM_019076.4:c.746C>A NP_061949.3:p.Ser249Ter
NM_019076.5:c.746C>A MANE Select NP_061949.3:p.Ser249Ter
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