Canonical Allele Identifier: CA342635130
Community Standard Title: NM_001111.5(ADAR):c.3364A>C (p.Lys1122Gln)
Gene: ADAR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154585296T>G , CM000663.2:g.154585296T>G GRCh38
NC_000001.10:g.154557772T>G , CM000663.1:g.154557772T>G GRCh37
NC_000001.9:g.152824396T>G NCBI36
NG_011844.1:g.47666A>C
NG_011844.2:g.51265A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001111.5:c.3364A>C MANE Select NP_001102.3:p.Lys1122Gln
ENST00000368474.9:c.3364A>C MANE Select ENSP00000357459.4:p.Lys1122Gln
NM_001025107.2:c.2479A>C NP_001020278.1:p.Lys827Gln
NM_001025107.3:c.2479A>C NP_001020278.1:p.Lys827Gln
NM_001111.4:c.3364A>C NP_001102.2:p.Lys1122Gln
NM_001193495.1:c.2479A>C NP_001180424.1:p.Lys827Gln
NM_001193495.2:c.2479A>C NP_001180424.1:p.Lys827Gln
NM_001365045.1:c.3391A>C NP_001351974.1:p.Lys1131Gln
NM_001365046.1:c.2479A>C NP_001351975.1:p.Lys827Gln
NM_001365047.1:c.2479A>C NP_001351976.1:p.Lys827Gln
NM_001365048.1:c.2479A>C NP_001351977.1:p.Lys827Gln
NM_001365049.1:c.2401A>C NP_001351978.1:p.Lys801Gln
NM_015840.3:c.3286A>C NP_056655.2:p.Lys1096Gln
NM_015840.4:c.3286A>C NP_056655.3:p.Lys1096Gln
NM_015841.3:c.3229A>C NP_056656.2:p.Lys1077Gln
NM_015841.4:c.3229A>C NP_056656.3:p.Lys1077Gln
ENST00000368471.7:c.2479A>C ENSP00000357456.3:p.Lys827Gln
ENST00000368471.8:c.2479A>C ENSP00000357456.3:p.Lys827Gln
ENST00000368474.8:c.3364A>C ENSP00000357459.4:p.Lys1122Gln
ENST00000492630.1:n.123A>C
ENST00000492630.2:n.2157A>C
ENST00000529168.1:c.3271A>C ENSP00000431794.1:p.Lys1091Gln
ENST00000529168.2:c.3286A>C ENSP00000431794.2:p.Lys1096Gln
ENST00000647682.2:n.3349A>C
ENST00000648231.2:c.2479A>C ENSP00000497555.1:p.Lys827Gln
ENST00000648311.1:c.2479A>C ENSP00000498137.1:p.Lys827Gln
ENST00000648714.2:c.*839A>C ENSP00000497434.2:n.*839A>C
ENST00000649021.1:n.4100A>C
ENST00000649022.2:c.2479A>C ENSP00000496896.2:p.Lys827Gln
ENST00000649042.1:c.2479A>C ENSP00000497790.1:p.Lys827Gln
ENST00000649042.2:c.3258A>C ENSP00000497790.2:n.3258A>C
ENST00000649408.2:c.*530A>C ENSP00000497386.2:n.*530A>C
ENST00000649724.1:c.2479A>C ENSP00000497932.1:p.Lys827Gln
ENST00000649724.2:c.3394A>C ENSP00000497932.2:p.Lys1132Gln
ENST00000649749.1:c.2479A>C ENSP00000497210.1:p.Lys827Gln
ENST00000679375.1:c.*1596A>C ENSP00000505887.1:n.*1596A>C
ENST00000679465.1:n.4225A>C
ENST00000679805.1:n.4100A>C
ENST00000679899.1:c.2422A>C ENSP00000505996.1:p.Lys808Gln
ENST00000680270.1:c.2479A>C ENSP00000505532.1:p.Lys827Gln
ENST00000680270.2:c.3247A>C ENSP00000505532.2:p.Lys1083Gln
ENST00000680305.1:c.3181A>C ENSP00000506312.1:p.Lys1061Gln
ENST00000681056.1:c.2479A>C ENSP00000506234.1:p.Lys827Gln
ENST00000681056.2:c.3016A>C ENSP00000506234.2:p.Lys1006Gln
ENST00000681235.1:c.*2886A>C ENSP00000506606.1:n.*2886A>C
ENST00000681429.1:n.3032A>C
ENST00000681683.1:c.2479A>C ENSP00000506666.1:p.Lys827Gln
ENST00000681786.1:n.4225A>C
ENST00000681901.1:c.*2964A>C ENSP00000504883.1:n.*2964A>C
XM_006711109.1:c.3394A>C XP_006711172.1:p.Lys1132Gln
XM_006711111.2:c.2479A>C XP_006711174.1:p.Lys827Gln
XM_006711112.1:c.2479A>C XP_006711175.1:p.Lys827Gln
XM_006711113.1:c.2479A>C XP_006711176.1:p.Lys827Gln
XM_006711113.2:c.2479A>C XP_006711176.1:p.Lys827Gln
XM_011509060.1:c.3493A>C XP_011507362.1:p.Lys1165Gln
XM_011509061.1:c.3415A>C XP_011507363.1:p.Lys1139Gln
XM_011509061.2:c.2401A>C XP_011507363.2:p.Lys801Gln
XM_011509062.1:c.3382A>C XP_011507364.1:p.Lys1128Gln
XM_024449674.1:c.3493A>C XP_024305442.1:p.Lys1165Gln