Canonical Allele Identifier: CA30848900
Community Standard Title: NM_001111.5(ADAR):c.3331A>G (p.Ile1111Val)
Gene: ADAR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154585329T>C , CM000663.2:g.154585329T>C GRCh38
NC_000001.10:g.154557805T>C , CM000663.1:g.154557805T>C GRCh37
NC_000001.9:g.152824429T>C NCBI36
NG_011844.1:g.47633A>G
NG_011844.2:g.51232A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001111.5:c.3331A>G MANE Select NP_001102.3:p.Ile1111Val
ENST00000368474.9:c.3331A>G MANE Select ENSP00000357459.4:p.Ile1111Val
NM_001025107.2:c.2446A>G NP_001020278.1:p.Ile816Val
NM_001025107.3:c.2446A>G NP_001020278.1:p.Ile816Val
NM_001111.4:c.3331A>G NP_001102.2:p.Ile1111Val
NM_001193495.1:c.2446A>G NP_001180424.1:p.Ile816Val
NM_001193495.2:c.2446A>G NP_001180424.1:p.Ile816Val
NM_001365045.1:c.3358A>G NP_001351974.1:p.Ile1120Val
NM_001365046.1:c.2446A>G NP_001351975.1:p.Ile816Val
NM_001365047.1:c.2446A>G NP_001351976.1:p.Ile816Val
NM_001365048.1:c.2446A>G NP_001351977.1:p.Ile816Val
NM_001365049.1:c.2368A>G NP_001351978.1:p.Ile790Val
NM_015840.3:c.3253A>G NP_056655.2:p.Ile1085Val
NM_015840.4:c.3253A>G NP_056655.3:p.Ile1085Val
NM_015841.3:c.3196A>G NP_056656.2:p.Ile1066Val
NM_015841.4:c.3196A>G NP_056656.3:p.Ile1066Val
ENST00000368471.7:c.2446A>G ENSP00000357456.3:p.Ile816Val
ENST00000368471.8:c.2446A>G ENSP00000357456.3:p.Ile816Val
ENST00000368474.8:c.3331A>G ENSP00000357459.4:p.Ile1111Val
ENST00000492630.1:n.90A>G
ENST00000492630.2:n.2124A>G
ENST00000529168.1:c.3238A>G ENSP00000431794.1:p.Ile1080Val
ENST00000529168.2:c.3253A>G ENSP00000431794.2:p.Ile1085Val
ENST00000647682.2:n.3316A>G
ENST00000648231.2:c.2446A>G ENSP00000497555.1:p.Ile816Val
ENST00000648311.1:c.2446A>G ENSP00000498137.1:p.Ile816Val
ENST00000648714.2:c.*806A>G ENSP00000497434.2:n.*806A>G
ENST00000649021.1:n.4067A>G
ENST00000649022.2:c.2446A>G ENSP00000496896.2:p.Ile816Val
ENST00000649042.1:c.2446A>G ENSP00000497790.1:p.Ile816Val
ENST00000649042.2:c.3225A>G ENSP00000497790.2:n.3225A>G
ENST00000649408.2:c.*497A>G ENSP00000497386.2:n.*497A>G
ENST00000649724.1:c.2446A>G ENSP00000497932.1:p.Ile816Val
ENST00000649724.2:c.3361A>G ENSP00000497932.2:p.Ile1121Val
ENST00000649749.1:c.2446A>G ENSP00000497210.1:p.Ile816Val
ENST00000679375.1:c.*1563A>G ENSP00000505887.1:n.*1563A>G
ENST00000679465.1:n.4192A>G
ENST00000679805.1:n.4067A>G
ENST00000679899.1:c.2389A>G ENSP00000505996.1:p.Ile797Val
ENST00000680270.1:c.2446A>G ENSP00000505532.1:p.Ile816Val
ENST00000680270.2:c.3214A>G ENSP00000505532.2:p.Ile1072Val
ENST00000680305.1:c.3148A>G ENSP00000506312.1:p.Ile1050Val
ENST00000681056.1:c.2446A>G ENSP00000506234.1:p.Ile816Val
ENST00000681056.2:c.2983A>G ENSP00000506234.2:p.Ile995Val
ENST00000681235.1:c.*2853A>G ENSP00000506606.1:n.*2853A>G
ENST00000681429.1:n.2999A>G
ENST00000681683.1:c.2446A>G ENSP00000506666.1:p.Ile816Val
ENST00000681786.1:n.4192A>G
ENST00000681901.1:c.*2931A>G ENSP00000504883.1:n.*2931A>G
XM_006711109.1:c.3361A>G XP_006711172.1:p.Ile1121Val
XM_006711111.2:c.2446A>G XP_006711174.1:p.Ile816Val
XM_006711112.1:c.2446A>G XP_006711175.1:p.Ile816Val
XM_006711113.1:c.2446A>G XP_006711176.1:p.Ile816Val
XM_006711113.2:c.2446A>G XP_006711176.1:p.Ile816Val
XM_011509060.1:c.3460A>G XP_011507362.1:p.Ile1154Val
XM_011509061.1:c.3382A>G XP_011507363.1:p.Ile1128Val
XM_011509061.2:c.2368A>G XP_011507363.2:p.Ile790Val
XM_011509062.1:c.3349A>G XP_011507364.1:p.Ile1117Val
XM_024449674.1:c.3460A>G XP_024305442.1:p.Ile1154Val