Canonical Allele Identifier: CA351073542

Gene: UGT1A8

Linked Data

• MyVariant Identifiers: chr2:g.234527110T>G (hg19) ; chr2:g.233618464T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233618464T>G , CM000664.2:g.233618464T>G	GRCh38
NC_000002.11:g.234527110T>G , CM000664.1:g.234527110T>G	GRCh37
NC_000002.10:g.234191849T>G	NCBI36
NG_002601.2:g.33721T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373450.5:c.757T>G MANE Select	ENSP00000362549.4:p.Leu253Val
ENST00000373450.4:c.757T>G	ENSP00000362549.4:p.Leu253Val
NM_019076.4:c.757T>G	NP_061949.3:p.Leu253Val
NM_019076.5:c.757T>G MANE Select	NP_061949.3:p.Leu253Val