Canonical Allele Identifier: CA2177598
Gene: UGT1A8 HGNC NCBI

Linked Data

dbSNP Id: rs1126804
ExAC: 2:234527001 A / G
gnomAD v2: 2-234527001-A-G
gnomAD v3: 2-233618355-A-G
gnomAD v4: 2-233618355-A-G
MyVariant Identifiers: chr2:g.234527001A>G (hg19) chr2:g.233618355A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233618355A>G , CM000664.2:g.233618355A>G GRCh38
NC_000002.11:g.234527001A>G , CM000664.1:g.234527001A>G GRCh37
NC_000002.10:g.234191740A>G NCBI36
NG_002601.2:g.33612A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373450.5:c.648A>G MANE Select ENSP00000362549.4:p.Glu216=
ENST00000373450.4:c.648A>G ENSP00000362549.4:p.Glu216=
NM_019076.4:c.648A>G NP_061949.3:p.Glu216=
NM_019076.5:c.648A>G MANE Select NP_061949.3:p.Glu216=
Search 100 bp 5'
Search 100 bp 3'