Canonical Allele Identifier: CA2177650
Gene: UGT1A8 HGNC NCBI

Linked Data

dbSNP Id: rs761828480
ExAC: 2:234527196 G / C
gnomAD v2: 2-234527196-G-C
gnomAD v4: 2-233618550-G-C
MyVariant Identifiers: chr2:g.234527196G>C (hg19) chr2:g.233618550G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233618550G>C , CM000664.2:g.233618550G>C GRCh38
NC_000002.11:g.234527196G>C , CM000664.1:g.234527196G>C GRCh37
NC_000002.10:g.234191935G>C NCBI36
NG_002601.2:g.33807G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373450.5:c.843G>C MANE Select ENSP00000362549.4:p.Lys281Asn
ENST00000373450.4:c.843G>C ENSP00000362549.4:p.Lys281Asn
NM_019076.4:c.843G>C NP_061949.3:p.Lys281Asn
NM_019076.5:c.843G>C MANE Select NP_061949.3:p.Lys281Asn
Search 100 bp 5'
Search 100 bp 3'