Canonical Allele Identifier: CA540311171
Gene: UGT1A8 HGNC NCBI

Linked Data

dbSNP Id: rs1234498308
gnomAD v2: 2-234527096-CA-C
gnomAD v4: 2-233618450-CA-C
MyVariant Identifiers: chr2:g.234527097del (hg19) chr2:g.233618451del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233618451del , CM000664.2:g.233618451del GRCh38
NC_000002.11:g.234527097del , CM000664.1:g.234527097del GRCh37
NC_000002.10:g.234191836del NCBI36
NG_002601.2:g.33708del

Transcript Alleles

HGVS Amino-acid change
ENST00000373450.5:c.744del MANE Select ENSP00000362549.4:p.Ser249GlnfsTer17
ENST00000373450.4:c.744del ENSP00000362549.4:p.Ser249GlnfsTer17
NM_019076.4:c.744del NP_061949.3:p.Ser249GlnfsTer17
NM_019076.5:c.744del MANE Select NP_061949.3:p.Ser249GlnfsTer17
Search 100 bp 5'
Search 100 bp 3'