Canonical Allele Identifier: CA351074301
Gene: UGT1A8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.234527201T>G (hg19) chr2:g.233618555T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233618555T>G , CM000664.2:g.233618555T>G GRCh38
NC_000002.11:g.234527201T>G , CM000664.1:g.234527201T>G GRCh37
NC_000002.10:g.234191940T>G NCBI36
NG_002601.2:g.33812T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373450.5:c.848T>G MANE Select ENSP00000362549.4:p.Leu283Trp
ENST00000373450.4:c.848T>G ENSP00000362549.4:p.Leu283Trp
NM_019076.4:c.848T>G NP_061949.3:p.Leu283Trp
NM_019076.5:c.848T>G MANE Select NP_061949.3:p.Leu283Trp
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