Canonical Allele Identifier: CA1043550764
Gene: UGT1A10 HGNC NCBI
UGT1A8 HGNC NCBI
UGT1A9 HGNC NCBI

Linked Data

dbSNP Id: rs2074229421
gnomAD v3: 2-233672509-GA-G
gnomAD v4: 2-233672509-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233672511del , CM000664.2:g.233672511del GRCh38
NC_000002.11:g.234581157del , CM000664.1:g.234581157del GRCh37
NC_000002.10:g.234245896del NCBI36
NG_002601.2:g.87768del

Transcript Alleles

HGVS Amino-acid change
ENST00000344644.10:c.855+35134del (UGT1A10) MANE Select ENSP00000343838.5:n.855+35134del
ENST00000373450.5:c.855+53949del (UGT1A8) MANE Select ENSP00000362549.4:n.855+53949del
ENST00000354728.5:c.577del (UGT1A9) MANE Select ENSP00000346768.4:p.Ile193PhefsTer3
ENST00000344644.9:c.855+35134del (UGT1A10) ENSP00000343838.5:n.855+35134del
ENST00000354728.4:c.577del (UGT1A9) ENSP00000346768.4:p.Ile193PhefsTer3
ENST00000373445.1:c.855+35134del (UGT1A10) ENSP00000362544.1:n.855+35134del
ENST00000373450.4:c.855+53949del (UGT1A8) ENSP00000362549.4:n.855+53949del
NM_019075.2:c.855+35134del (UGT1A10) NP_061948.1:n.855+35134del
NM_019076.4:c.855+53949del (UGT1A8) NP_061949.3:n.855+53949del
NM_021027.2:c.577del (UGT1A9) NP_066307.1:p.Ile193PhefsTer3
NM_021027.3:c.577del (UGT1A9) MANE Select NP_066307.1:p.Ile193PhefsTer3
NM_019075.4:c.855+35134del (UGT1A10) MANE Select NP_061948.1:n.855+35134del
NM_019076.5:c.855+53949del (UGT1A8) MANE Select NP_061949.3:n.855+53949del
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