Canonical Allele Identifier: CA2178511

Identifiers and link-outs to other resources

ClinVar Variation Id: 440381
ClinVar RCV Id: RCV000507301
dbSNP Id: rs2070959

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233693545A>G , CM000664.2:g.233693545A>G GRCh38
NC_000002.11:g.234602191A>G , CM000664.1:g.234602191A>G GRCh37
NC_000002.10:g.234266930A>G NCBI36
NG_002601.2:g.108802A>G

Transcript Alleles

HGVS Amino-acid change
NM_001072.3:c.541A>G (UGT1A6) VV NP_001063.2:p.Thr181Ala
NM_019075.2:c.855+56168A>G (UGT1A10) VV NP_061948.1:p.=
NM_019076.4:c.856-73489A>G (UGT1A8) VV NP_061949.3:p.=
NM_019077.2:n.855+10753A>G (UGT1A7) VV NP_061950.2:p.=
NM_021027.2:c.855+20756A>G (UGT1A9) VV NP_066307.1:p.=
NM_205862.1:c.-7-254A>G (UGT1A6) VV NP_995584.1:p.=
NM_001072.4:c.541A>G (UGT1A6) VV NP_001063.2:p.Thr181Ala
NM_021027.3:c.855+20756A>G (UGT1A9) VV NP_066307.1:p.=
ENST00000305139.10:c.541A>G ENSP00000303174.6:p.Thr181Ala
ENST00000344644.9:c.855+56168A>G ENSP00000343838.5:p.=
ENST00000354728.4:c.855+20756A>G ENSP00000346768.4:p.=
ENST00000373424.5:c.-7-254A>G ENSP00000362523.1:p.=
ENST00000373426.3:n.855+10753A>G ENSP00000362525.3:p.=
ENST00000373445.1:c.855+56168A>G ENSP00000362544.1:p.=
ENST00000373450.4:c.856-73489A>G ENSP00000362549.4:p.=
ENST00000441351.1:c.541A>G ENSP00000389637.1:p.Thr181Ala
ENST00000446481.6:c.-7-254A>G ENSP00000401541.1:p.=
ENST00000480628.1:n.120-254A>G