Canonical Allele Identifier: CA351079466

Gene: UGT1A10 UGT1A8 UGT1A9

Linked Data

• ClinVar Variation Id: 3186136
• ClinVar RCV Id: RCV004479534
• dbSNP Id: rs1387823761
• gnomAD v2: 2-234581133-G-A
• gnomAD v4: 2-233672487-G-A
• MyVariant Identifiers: chr2:g.234581133G>A (hg19) ; chr2:g.233672487G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233672487G>A , CM000664.2:g.233672487G>A	GRCh38
NC_000002.11:g.234581133G>A , CM000664.1:g.234581133G>A	GRCh37
NC_000002.10:g.234245872G>A	NCBI36
NG_002601.2:g.87744G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344644.10:c.855+35110G>A (UGT1A10) MANE Select	ENSP00000343838.5:n.855+35110G>A
ENST00000373450.5:c.855+53925G>A (UGT1A8) MANE Select	ENSP00000362549.4:n.855+53925G>A
ENST00000354728.5:c.553G>A (UGT1A9) MANE Select	ENSP00000346768.4:p.Ala185Thr
ENST00000344644.9:c.855+35110G>A (UGT1A10)	ENSP00000343838.5:n.855+35110G>A
ENST00000354728.4:c.553G>A (UGT1A9)	ENSP00000346768.4:p.Ala185Thr
ENST00000373445.1:c.855+35110G>A (UGT1A10)	ENSP00000362544.1:n.855+35110G>A
ENST00000373450.4:c.855+53925G>A (UGT1A8)	ENSP00000362549.4:n.855+53925G>A
NM_019075.2:c.855+35110G>A (UGT1A10)	NP_061948.1:n.855+35110G>A
NM_019076.4:c.855+53925G>A (UGT1A8)	NP_061949.3:n.855+53925G>A
NM_021027.2:c.553G>A (UGT1A9)	NP_066307.1:p.Ala185Thr
NM_021027.3:c.553G>A (UGT1A9) MANE Select	NP_066307.1:p.Ala185Thr
NM_019075.4:c.855+35110G>A (UGT1A10) MANE Select	NP_061948.1:n.855+35110G>A
NM_019076.5:c.855+53925G>A (UGT1A8) MANE Select	NP_061949.3:n.855+53925G>A