Canonical Allele Identifier: CA351073460
Gene: UGT1A8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.234527101A>T (hg19) chr2:g.233618455A>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000373450.5:c.748A>T MANE Select ENSP00000362549.4:p.Ile250Phe
ENST00000373450.4:c.748A>T ENSP00000362549.4:p.Ile250Phe
NM_019076.4:c.748A>T NP_061949.3:p.Ile250Phe
NM_019076.5:c.748A>T MANE Select NP_061949.3:p.Ile250Phe
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