Canonical Allele Identifier: CA1131046
Community Standard Title: NM_001111.5(ADAR):c.3124C>T (p.Arg1042Cys)
Gene: ADAR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154586259G>A , CM000663.2:g.154586259G>A GRCh38
NC_000001.10:g.154558735G>A , CM000663.1:g.154558735G>A GRCh37
NC_000001.9:g.152825359G>A NCBI36
NG_011844.1:g.46703C>T
NG_011844.2:g.50302C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001111.5:c.3124C>T MANE Select NP_001102.3:p.Arg1042Cys
ENST00000368474.9:c.3124C>T MANE Select ENSP00000357459.4:p.Arg1042Cys
NM_001025107.2:c.2239C>T NP_001020278.1:p.Arg747Cys
NM_001025107.3:c.2239C>T NP_001020278.1:p.Arg747Cys
NM_001111.4:c.3124C>T NP_001102.2:p.Arg1042Cys
NM_001193495.1:c.2239C>T NP_001180424.1:p.Arg747Cys
NM_001193495.2:c.2239C>T NP_001180424.1:p.Arg747Cys
NM_001365045.1:c.3151C>T NP_001351974.1:p.Arg1051Cys
NM_001365046.1:c.2239C>T NP_001351975.1:p.Arg747Cys
NM_001365047.1:c.2239C>T NP_001351976.1:p.Arg747Cys
NM_001365048.1:c.2239C>T NP_001351977.1:p.Arg747Cys
NM_001365049.1:c.2161C>T NP_001351978.1:p.Arg721Cys
NM_015840.3:c.3046C>T NP_056655.2:p.Arg1016Cys
NM_015840.4:c.3046C>T NP_056655.3:p.Arg1016Cys
NM_015841.3:c.2989C>T NP_056656.2:p.Arg997Cys
NM_015841.4:c.2989C>T NP_056656.3:p.Arg997Cys
ENST00000368471.7:c.2239C>T ENSP00000357456.3:p.Arg747Cys
ENST00000368471.8:c.2239C>T ENSP00000357456.3:p.Arg747Cys
ENST00000368474.8:c.3124C>T ENSP00000357459.4:p.Arg1042Cys
ENST00000492630.2:n.1509C>T
ENST00000529168.1:c.3031C>T ENSP00000431794.1:p.Arg1011Cys
ENST00000529168.2:c.3046C>T ENSP00000431794.2:p.Arg1016Cys
ENST00000530954.1:n.261C>T
ENST00000534279.1:n.583C>T
ENST00000647682.2:n.3109C>T
ENST00000648231.2:c.2239C>T ENSP00000497555.1:p.Arg747Cys
ENST00000648311.1:c.2239C>T ENSP00000498137.1:p.Arg747Cys
ENST00000648714.2:c.*599C>T ENSP00000497434.2:n.*599C>T
ENST00000649021.1:n.3452C>T
ENST00000649022.2:c.2239C>T ENSP00000496896.2:p.Arg747Cys
ENST00000649042.1:c.2239C>T ENSP00000497790.1:p.Arg747Cys
ENST00000649042.2:c.3018C>T ENSP00000497790.2:n.3018C>T
ENST00000649408.2:c.*290C>T ENSP00000497386.2:n.*290C>T
ENST00000649724.1:c.2239C>T ENSP00000497932.1:p.Arg747Cys
ENST00000649724.2:c.3154C>T ENSP00000497932.2:p.Arg1052Cys
ENST00000649749.1:c.2239C>T ENSP00000497210.1:p.Arg747Cys
ENST00000679375.1:c.*1356C>T ENSP00000505887.1:n.*1356C>T
ENST00000679465.1:n.3577C>T
ENST00000679805.1:n.3452C>T
ENST00000679899.1:c.2182C>T ENSP00000505996.1:p.Arg728Cys
ENST00000680270.1:c.2239C>T ENSP00000505532.1:p.Arg747Cys
ENST00000680270.2:c.3007C>T ENSP00000505532.2:p.Arg1003Cys
ENST00000680305.1:c.3020-394C>T ENSP00000506312.1:n.3020-394C>T
ENST00000681056.1:c.2239C>T ENSP00000506234.1:p.Arg747Cys
ENST00000681056.2:c.2776C>T ENSP00000506234.2:p.Arg926Cys
ENST00000681235.1:c.*2646C>T ENSP00000506606.1:n.*2646C>T
ENST00000681429.1:n.2384C>T
ENST00000681683.1:c.2239C>T ENSP00000506666.1:p.Arg747Cys
ENST00000681786.1:n.3577C>T
ENST00000681901.1:c.*2724C>T ENSP00000504883.1:n.*2724C>T
XM_006711109.1:c.3154C>T XP_006711172.1:p.Arg1052Cys
XM_006711111.2:c.2239C>T XP_006711174.1:p.Arg747Cys
XM_006711112.1:c.2239C>T XP_006711175.1:p.Arg747Cys
XM_006711113.1:c.2239C>T XP_006711176.1:p.Arg747Cys
XM_006711113.2:c.2239C>T XP_006711176.1:p.Arg747Cys
XM_011509060.1:c.3253C>T XP_011507362.1:p.Arg1085Cys
XM_011509061.1:c.3175C>T XP_011507363.1:p.Arg1059Cys
XM_011509061.2:c.2161C>T XP_011507363.2:p.Arg721Cys
XM_011509062.1:c.3142C>T XP_011507364.1:p.Arg1048Cys
XM_024449674.1:c.3253C>T XP_024305442.1:p.Arg1085Cys