Canonical Allele Identifier: CA1043542550
Gene: UGT1A8 HGNC NCBI

Linked Data

dbSNP Id: rs2072945175
gnomAD v3: 2-233618541-T-TA
gnomAD v4: 2-233618541-T-TA
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233618541_233618542insA , CM000664.2:g.233618541_233618542insA GRCh38
NC_000002.11:g.234527187_234527188insA , CM000664.1:g.234527187_234527188insA GRCh37
NC_000002.10:g.234191926_234191927insA NCBI36
NG_002601.2:g.33798_33799insA

Transcript Alleles

HGVS Amino-acid change
ENST00000373450.5:c.834_835insA MANE Select ENSP00000362549.4:p.Gln279ThrfsTer10
ENST00000373450.4:c.834_835insA ENSP00000362549.4:p.Gln279ThrfsTer10
NM_019076.4:c.834_835insA NP_061949.3:p.Gln279ThrfsTer10
NM_019076.5:c.834_835insA MANE Select NP_061949.3:p.Gln279ThrfsTer10
Search 100 bp 5'
Search 100 bp 3'