Canonical Allele Identifier: CA351074299
Gene: UGT1A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233618554T>A , CM000664.2:g.233618554T>A GRCh38
NC_000002.11:g.234527200T>A , CM000664.1:g.234527200T>A GRCh37
NC_000002.10:g.234191939T>A NCBI36
NG_002601.2:g.33811T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373450.5:c.847T>A MANE Select ENSP00000362549.4:p.Leu283Met
ENST00000373450.4:c.847T>A ENSP00000362549.4:p.Leu283Met
NM_019076.4:c.847T>A NP_061949.3:p.Leu283Met
NM_019076.5:c.847T>A MANE Select NP_061949.3:p.Leu283Met