Canonical Allele Identifier: CA351073422
Gene: UGT1A8 HGNC NCBI

Linked Data

dbSNP Id: rs779406388
gnomAD v2: 2-234527094-C-A
gnomAD v3: 2-233618448-C-A
gnomAD v4: 2-233618448-C-A
MyVariant Identifiers: chr2:g.234527094C>A (hg19) chr2:g.233618448C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233618448C>A , CM000664.2:g.233618448C>A GRCh38
NC_000002.11:g.234527094C>A , CM000664.1:g.234527094C>A GRCh37
NC_000002.10:g.234191833C>A NCBI36
NG_002601.2:g.33705C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373450.5:c.741C>A MANE Select ENSP00000362549.4:p.His247Gln
ENST00000373450.4:c.741C>A ENSP00000362549.4:p.His247Gln
NM_019076.4:c.741C>A NP_061949.3:p.His247Gln
NM_019076.5:c.741C>A MANE Select NP_061949.3:p.His247Gln
Search 100 bp 5'
Search 100 bp 3'