Canonical Allele Identifier: CA2177562

Gene: UGT1A8

Linked Data

• dbSNP Id: rs1042597
• ExAC: 2:234526871 C / G
• gnomAD v2: 2-234526871-C-G
• gnomAD v3: 2-233618225-C-G
• gnomAD v4: 2-233618225-C-G
• MyVariant Identifiers: chr2:g.234526871C>G (hg19) ; chr2:g.233618225C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233618225C>G , CM000664.2:g.233618225C>G	GRCh38
NC_000002.11:g.234526871C>G , CM000664.1:g.234526871C>G	GRCh37
NC_000002.10:g.234191610C>G	NCBI36
NG_002601.2:g.33482C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000373450.5:c.518C>G MANE Select	ENSP00000362549.4:p.Ala173Gly
ENST00000373450.4:c.518C>G	ENSP00000362549.4:p.Ala173Gly
NM_019076.4:c.518C>G	NP_061949.3:p.Ala173Gly
NM_019076.5:c.518C>G MANE Select	NP_061949.3:p.Ala173Gly