Canonical Allele Identifier: CA2178884

Gene: UGT1A10 UGT1A5 UGT1A7 UGT1A8 UGT1A6 UGT1A9 UGT1A4

Linked Data

• dbSNP Id: rs2011425
• ExAC: 2:234627608 T / A
• gnomAD v2: 2-234627608-T-A
• gnomAD v3: 2-233718962-T-A
• gnomAD v4: 2-233718962-T-A
• MyVariant Identifiers: chr2:g.234627608T>A (hg19) ; chr2:g.233718962T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233718962T>A , CM000664.2:g.233718962T>A	GRCh38
NC_000002.11:g.234627608T>A , CM000664.1:g.234627608T>A	GRCh37
NC_000002.10:g.234292347T>A	NCBI36
NG_002601.2:g.134219T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000344644.10:c.856-48072T>A (UGT1A10) MANE Select	ENSP00000343838.5:n.856-48072T>A
ENST00000373414.4:c.867+5104T>A (UGT1A5) MANE Select	ENSP00000362513.3:n.867+5104T>A
ENST00000373426.4:c.855+36170T>A (UGT1A7) MANE Select	ENSP00000362525.3:n.855+36170T>A
ENST00000373450.5:c.856-48072T>A (UGT1A8) MANE Select	ENSP00000362549.4:n.856-48072T>A
ENST00000305139.11:c.861+25097T>A (UGT1A6) MANE Select	ENSP00000303174.6:n.861+25097T>A
ENST00000354728.5:c.855+46173T>A (UGT1A9) MANE Select	ENSP00000346768.4:n.855+46173T>A
ENST00000373409.8:c.142T>A (UGT1A4) MANE Select	ENSP00000362508.4:p.Leu48Met
ENST00000305139.10:c.861+25097T>A (UGT1A6)	ENSP00000303174.6:n.861+25097T>A
ENST00000344644.9:c.856-48072T>A (UGT1A10)	ENSP00000343838.5:n.856-48072T>A
ENST00000354728.4:c.855+46173T>A (UGT1A9)	ENSP00000346768.4:n.855+46173T>A
ENST00000373409.7:c.142T>A (UGT1A4)	ENSP00000362508.3:p.Leu48Met
ENST00000373414.3:c.867+5104T>A	ENSP00000362513.3:n.867+5104T>A
ENST00000373424.5:c.60+25097T>A (UGT1A6)	ENSP00000362523.1:n.60+25097T>A
ENST00000373426.3:c.855+36170T>A (UGT1A7)	ENSP00000362525.3:n.855+36170T>A
ENST00000373445.1:c.856-48072T>A (UGT1A10)	ENSP00000362544.1:n.856-48072T>A
ENST00000373450.4:c.856-48072T>A (UGT1A8)	ENSP00000362549.4:n.856-48072T>A
ENST00000406651.1:c.60+25097T>A (UGT1A6)	ENSP00000386107.1:n.60+25097T>A
ENST00000446481.6:c.60+25097T>A (UGT1A6)	ENSP00000401541.1:n.60+25097T>A
ENST00000450233.1:c.142T>A (UGT1A4)	ENSP00000408608.1:p.Leu48Met
ENST00000478062.2:n.182-10542T>A (UGT1A6)
ENST00000480628.1:n.186+25097T>A (UGT1A6)
ENST00000484784.2:c.441+930T>A (UGT1A6)	ENSP00000419780.2:n.441+930T>A
NM_001072.3:c.861+25097T>A (UGT1A6)	NP_001063.2:n.861+25097T>A
NM_007120.2:c.142T>A (UGT1A4)	NP_009051.1:p.Leu48Met
NM_019075.2:c.856-48072T>A (UGT1A10)	NP_061948.1:n.856-48072T>A
NM_019076.4:c.856-48072T>A (UGT1A8)	NP_061949.3:n.856-48072T>A
NM_019077.2:c.855+36170T>A (UGT1A7)	NP_061950.2:n.855+36170T>A
NM_019078.1:c.867+5104T>A (UGT1A5)	NP_061951.1:n.867+5104T>A
NM_021027.2:c.855+46173T>A (UGT1A9)	NP_066307.1:n.855+46173T>A
NM_205862.1:c.60+25097T>A (UGT1A6)	NP_995584.1:n.60+25097T>A
NM_001072.4:c.861+25097T>A (UGT1A6) MANE Select	NP_001063.2:n.861+25097T>A
NM_021027.3:c.855+46173T>A (UGT1A9) MANE Select	NP_066307.1:n.855+46173T>A
NM_007120.3:c.142T>A (UGT1A4) MANE Select	NP_009051.1:p.Leu48Met
NM_205862.2:c.60+25097T>A (UGT1A6)	NP_995584.1:n.60+25097T>A
NM_019075.4:c.856-48072T>A (UGT1A10) MANE Select	NP_061948.1:n.856-48072T>A
NM_019076.5:c.856-48072T>A (UGT1A8) MANE Select	NP_061949.3:n.856-48072T>A
NM_019077.3:c.855+36170T>A (UGT1A7) MANE Select	NP_061950.2:n.855+36170T>A
NM_019078.2:c.867+5104T>A (UGT1A5) MANE Select	NP_061951.1:n.867+5104T>A
NM_205862.3:c.60+25097T>A (UGT1A6)	NP_995584.1:n.60+25097T>A