Canonical Allele Identifier: CA351072727
Gene: UGT1A8 HGNC NCBI

Linked Data

dbSNP Id: rs1191234319
MyVariant Identifiers: chr2:g.234527020T>C (hg19) chr2:g.233618374T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233618374T>C , CM000664.2:g.233618374T>C GRCh38
NC_000002.11:g.234527020T>C , CM000664.1:g.234527020T>C GRCh37
NC_000002.10:g.234191759T>C NCBI36
NG_002601.2:g.33631T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373450.5:c.667T>C MANE Select ENSP00000362549.4:p.Phe223Leu
ENST00000373450.4:c.667T>C ENSP00000362549.4:p.Phe223Leu
NM_019076.4:c.667T>C NP_061949.3:p.Phe223Leu
NM_019076.5:c.667T>C MANE Select NP_061949.3:p.Phe223Leu
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