Canonical Allele Identifier: CA2178098

Gene: UGT1A10 UGT1A8 UGT1A9

Linked Data

• dbSNP Id: rs762262088
• ExAC: 2:234581244 C / T
• gnomAD v2: 2-234581244-C-T
• gnomAD v4: 2-233672598-C-T
• COSMIC: COSM1306561
• MyVariant Identifiers: chr2:g.234581244C>T (hg19) ; chr2:g.233672598C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233672598C>T , CM000664.2:g.233672598C>T	GRCh38
NC_000002.11:g.234581244C>T , CM000664.1:g.234581244C>T	GRCh37
NC_000002.10:g.234245983C>T	NCBI36
NG_002601.2:g.87855C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344644.10:c.855+35221C>T (UGT1A10) MANE Select	ENSP00000343838.5:n.855+35221C>T
ENST00000373450.5:c.855+54036C>T (UGT1A8) MANE Select	ENSP00000362549.4:n.855+54036C>T
ENST00000354728.5:c.664C>T (UGT1A9) MANE Select	ENSP00000346768.4:p.Arg222Cys
ENST00000344644.9:c.855+35221C>T (UGT1A10)	ENSP00000343838.5:n.855+35221C>T
ENST00000354728.4:c.664C>T (UGT1A9)	ENSP00000346768.4:p.Arg222Cys
ENST00000373445.1:c.855+35221C>T (UGT1A10)	ENSP00000362544.1:n.855+35221C>T
ENST00000373450.4:c.855+54036C>T (UGT1A8)	ENSP00000362549.4:n.855+54036C>T
NM_019075.2:c.855+35221C>T (UGT1A10)	NP_061948.1:n.855+35221C>T
NM_019076.4:c.855+54036C>T (UGT1A8)	NP_061949.3:n.855+54036C>T
NM_021027.2:c.664C>T (UGT1A9)	NP_066307.1:p.Arg222Cys
NM_021027.3:c.664C>T (UGT1A9) MANE Select	NP_066307.1:p.Arg222Cys
NM_019075.4:c.855+35221C>T (UGT1A10) MANE Select	NP_061948.1:n.855+35221C>T
NM_019076.5:c.855+54036C>T (UGT1A8) MANE Select	NP_061949.3:n.855+54036C>T