Canonical Allele Identifier: CA2178514

Identifiers and link-outs to other resources

ClinVar Variation Id: 440380
ClinVar RCV Id: RCV000506552
dbSNP Id: rs1105879

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233693556A>C , CM000664.2:g.233693556A>C GRCh38
NC_000002.11:g.234602202A>C , CM000664.1:g.234602202A>C GRCh37
NC_000002.10:g.234266941A>C NCBI36
NG_002601.2:g.108813A>C

Transcript Alleles

HGVS Amino-acid change
NM_001072.3:c.552A>C (UGT1A6) VV NP_001063.2:p.Arg184Ser
NM_019075.2:c.855+56179A>C (UGT1A10) VV NP_061948.1:p.=
NM_019076.4:c.856-73478A>C (UGT1A8) VV NP_061949.3:p.=
NM_019077.2:n.855+10764A>C (UGT1A7) VV NP_061950.2:p.=
NM_021027.2:c.855+20767A>C (UGT1A9) VV NP_066307.1:p.=
NM_205862.1:c.-7-243A>C (UGT1A6) VV NP_995584.1:p.=
NM_001072.4:c.552A>C (UGT1A6) VV NP_001063.2:p.Arg184Ser
NM_021027.3:c.855+20767A>C (UGT1A9) VV NP_066307.1:p.=
ENST00000305139.10:c.552A>C ENSP00000303174.6:p.Arg184Ser
ENST00000344644.9:c.855+56179A>C ENSP00000343838.5:p.=
ENST00000354728.4:c.855+20767A>C ENSP00000346768.4:p.=
ENST00000373424.5:c.-7-243A>C ENSP00000362523.1:p.=
ENST00000373426.3:n.855+10764A>C ENSP00000362525.3:p.=
ENST00000373445.1:c.855+56179A>C ENSP00000362544.1:p.=
ENST00000373450.4:c.856-73478A>C ENSP00000362549.4:p.=
ENST00000441351.1:c.552A>C ENSP00000389637.1:p.Arg184Ser
ENST00000446481.6:c.-7-243A>C ENSP00000401541.1:p.=
ENST00000480628.1:n.120-243A>C