Canonical Allele Identifier: CA15759653
Gene: DAO HGNC NCBI
COSMIC:
COSN17572867 (not active)
gnomAD v2:
12:109283603 A / C
gnomAD v3:
12:108889827 A / C
gnomAD v4:
chr12-108889827-A-C
Joint Max Group AF 0.44169255 (NFE)
Genomes Max Group AF 0.44169255 (NFE)
ClinVar RCV:
RCV001597734
ClinVar Variation:
1221443
dbSNP:
3741775
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.108889827A>C , CM000674.2:g.108889827A>C GRCh38
NC_000012.11:g.109283603A>C , CM000674.1:g.109283603A>C GRCh37
NC_000012.10:g.107807732A>C NCBI36
NG_023236.1:g.14747A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000228476.8:c.386+282A>C MANE Select ENSP00000228476.3:n.386+282A>C
ENST00000228476.7:c.386+282A>C ENSP00000228476.3:n.386+282A>C
ENST00000547122.5:c.*34+282A>C ENSP00000448095.1:n.*34+282A>C
ENST00000547166.1:c.386+282A>C ENSP00000447104.1:n.386+282A>C
ENST00000547768.5:c.17+282A>C ENSP00000449967.1:n.17+282A>C
ENST00000549215.5:c.310-381A>C ENSP00000449248.1:n.310-381A>C
ENST00000551281.5:c.309+2263A>C ENSP00000446853.1:n.309+2263A>C
NM_001917.4:c.386+282A>C NP_001908.3:n.386+282A>C
XM_005268692.2:c.386+282A>C XP_005268749.1:n.386+282A>C
XM_011538004.1:c.386+282A>C XP_011536306.1:n.386+282A>C
XM_011538005.1:c.386+282A>C XP_011536307.1:n.386+282A>C
XM_005268692.4:c.386+282A>C XP_005268749.1:n.386+282A>C
XM_011538004.2:c.386+282A>C XP_011536306.1:n.386+282A>C
XM_011538005.2:c.386+282A>C XP_011536307.1:n.386+282A>C
NM_001917.5:c.386+282A>C MANE Select NP_001908.3:n.386+282A>C
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