Canonical Allele Identifier: CA2177646
Gene: UGT1A8 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.233618537G>A
GRCh37 chr2:g.234527183G>A
Revel Score:
ENST00000373450 (MANE Select) 0.334
gnomAD v2:
2:234527183 G / A
gnomAD v3:
2:233618537 G / A
gnomAD v4:
chr2-233618537-G-A
Joint Max Group AF 0.02645181 (NFE)
Genomes Max Group AF 0.02092559 (NFE)
Exomes Max Group AF 0.02674016 (NFE)
dbSNP:
17863762
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233618537G>A , CM000664.2:g.233618537G>A GRCh38
NC_000002.11:g.234527183G>A , CM000664.1:g.234527183G>A GRCh37
NC_000002.10:g.234191922G>A NCBI36
NG_002601.2:g.33794G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373450.5:c.830G>A MANE Select ENSP00000362549.4:p.Cys277Tyr
ENST00000373450.4:c.830G>A ENSP00000362549.4:p.Cys277Tyr
NM_019076.4:c.830G>A NP_061949.3:p.Cys277Tyr
NM_019076.5:c.830G>A MANE Select NP_061949.3:p.Cys277Tyr
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