Canonical Allele Identifier: CA2177604

Gene: UGT1A8

Linked Data

• dbSNP Id: rs768137865
• ExAC: 2:234527023 T / C
• gnomAD v2: 2-234527023-T-C
• gnomAD v4: 2-233618377-T-C
• MyVariant Identifiers: chr2:g.234527023T>C (hg19) ; chr2:g.234527023_234527025delinsCCC (hg19) ; chr2:g.233618377T>C (hg38) ; chr2:g.233618377_233618379delinsCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233618377T>C , CM000664.2:g.233618377T>C	GRCh38
NC_000002.11:g.234527023T>C , CM000664.1:g.234527023T>C	GRCh37
NC_000002.10:g.234191762T>C	NCBI36
NG_002601.2:g.33634T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373450.5:c.670T>C MANE Select	ENSP00000362549.4:p.Ser224Pro
ENST00000373450.4:c.670T>C	ENSP00000362549.4:p.Ser224Pro
NM_019076.4:c.670T>C	NP_061949.3:p.Ser224Pro
NM_019076.5:c.670T>C MANE Select	NP_061949.3:p.Ser224Pro