Canonical Allele Identifier: CA342635428
Community Standard Title: NM_001111.5(ADAR):c.3233G>T (p.Arg1078Leu)
Gene: ADAR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154585835C>A , CM000663.2:g.154585835C>A GRCh38
NC_000001.10:g.154558311C>A , CM000663.1:g.154558311C>A GRCh37
NC_000001.9:g.152824935C>A NCBI36
NG_011844.1:g.47127G>T
NG_011844.2:g.50726G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001111.5:c.3233G>T MANE Select NP_001102.3:p.Arg1078Leu
ENST00000368474.9:c.3233G>T MANE Select ENSP00000357459.4:p.Arg1078Leu
NM_001025107.2:c.2348G>T NP_001020278.1:p.Arg783Leu
NM_001025107.3:c.2348G>T NP_001020278.1:p.Arg783Leu
NM_001111.4:c.3233G>T NP_001102.2:p.Arg1078Leu
NM_001193495.1:c.2348G>T NP_001180424.1:p.Arg783Leu
NM_001193495.2:c.2348G>T NP_001180424.1:p.Arg783Leu
NM_001365045.1:c.3260G>T NP_001351974.1:p.Arg1087Leu
NM_001365046.1:c.2348G>T NP_001351975.1:p.Arg783Leu
NM_001365047.1:c.2348G>T NP_001351976.1:p.Arg783Leu
NM_001365048.1:c.2348G>T NP_001351977.1:p.Arg783Leu
NM_001365049.1:c.2270G>T NP_001351978.1:p.Arg757Leu
NM_015840.3:c.3155G>T NP_056655.2:p.Arg1052Leu
NM_015840.4:c.3155G>T NP_056655.3:p.Arg1052Leu
NM_015841.3:c.3098G>T NP_056656.2:p.Arg1033Leu
NM_015841.4:c.3098G>T NP_056656.3:p.Arg1033Leu
ENST00000368471.7:c.2348G>T ENSP00000357456.3:p.Arg783Leu
ENST00000368471.8:c.2348G>T ENSP00000357456.3:p.Arg783Leu
ENST00000368474.8:c.3233G>T ENSP00000357459.4:p.Arg1078Leu
ENST00000492630.2:n.1618G>T
ENST00000529168.1:c.3140G>T ENSP00000431794.1:p.Arg1047Leu
ENST00000529168.2:c.3155G>T ENSP00000431794.2:p.Arg1052Leu
ENST00000530954.1:n.370G>T
ENST00000647682.2:n.3218G>T
ENST00000648231.2:c.2348G>T ENSP00000497555.1:p.Arg783Leu
ENST00000648311.1:c.2348G>T ENSP00000498137.1:p.Arg783Leu
ENST00000648714.2:c.*708G>T ENSP00000497434.2:n.*708G>T
ENST00000649021.1:n.3561G>T
ENST00000649022.2:c.2348G>T ENSP00000496896.2:p.Arg783Leu
ENST00000649042.1:c.2348G>T ENSP00000497790.1:p.Arg783Leu
ENST00000649042.2:c.3127G>T ENSP00000497790.2:n.3127G>T
ENST00000649408.2:c.*399G>T ENSP00000497386.2:n.*399G>T
ENST00000649724.1:c.2348G>T ENSP00000497932.1:p.Arg783Leu
ENST00000649724.2:c.3263G>T ENSP00000497932.2:p.Arg1088Leu
ENST00000649749.1:c.2348G>T ENSP00000497210.1:p.Arg783Leu
ENST00000679375.1:c.*1465G>T ENSP00000505887.1:n.*1465G>T
ENST00000679465.1:n.3686G>T
ENST00000679805.1:n.3561G>T
ENST00000679899.1:c.2291G>T ENSP00000505996.1:p.Arg764Leu
ENST00000680270.1:c.2348G>T ENSP00000505532.1:p.Arg783Leu
ENST00000680270.2:c.3116G>T ENSP00000505532.2:p.Arg1039Leu
ENST00000680305.1:c.3050G>T ENSP00000506312.1:p.Arg1017Leu
ENST00000681056.1:c.2348G>T ENSP00000506234.1:p.Arg783Leu
ENST00000681056.2:c.2885G>T ENSP00000506234.2:p.Arg962Leu
ENST00000681235.1:c.*2755G>T ENSP00000506606.1:n.*2755G>T
ENST00000681429.1:n.2493G>T
ENST00000681683.1:c.2348G>T ENSP00000506666.1:p.Arg783Leu
ENST00000681786.1:n.3686G>T
ENST00000681901.1:c.*2833G>T ENSP00000504883.1:n.*2833G>T
XM_006711109.1:c.3263G>T XP_006711172.1:p.Arg1088Leu
XM_006711111.2:c.2348G>T XP_006711174.1:p.Arg783Leu
XM_006711112.1:c.2348G>T XP_006711175.1:p.Arg783Leu
XM_006711113.1:c.2348G>T XP_006711176.1:p.Arg783Leu
XM_006711113.2:c.2348G>T XP_006711176.1:p.Arg783Leu
XM_011509060.1:c.3362G>T XP_011507362.1:p.Arg1121Leu
XM_011509061.1:c.3284G>T XP_011507363.1:p.Arg1095Leu
XM_011509061.2:c.2270G>T XP_011507363.2:p.Arg757Leu
XM_011509062.1:c.3251G>T XP_011507364.1:p.Arg1084Leu
XM_024449674.1:c.3362G>T XP_024305442.1:p.Arg1121Leu