Canonical Allele Identifier: CA351073457
Gene: UGT1A8 HGNC NCBI

Linked Data

gnomAD v4: 2-233618455-A-C
MyVariant Identifiers: chr2:g.234527101A>C (hg19) chr2:g.233618455A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233618455A>C , CM000664.2:g.233618455A>C GRCh38
NC_000002.11:g.234527101A>C , CM000664.1:g.234527101A>C GRCh37
NC_000002.10:g.234191840A>C NCBI36
NG_002601.2:g.33712A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000373450.5:c.748A>C MANE Select ENSP00000362549.4:p.Ile250Leu
ENST00000373450.4:c.748A>C ENSP00000362549.4:p.Ile250Leu
NM_019076.4:c.748A>C NP_061949.3:p.Ile250Leu
NM_019076.5:c.748A>C MANE Select NP_061949.3:p.Ile250Leu
Search 100 bp 5'
Search 100 bp 3'