Canonical Allele Identifier: CA421231528
Community Standard Title: NM_001111.5(ADAR):c.3504C>T (p.Leu1168=)
Gene: ADAR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154584983G>A , CM000663.2:g.154584983G>A GRCh38
NC_000001.10:g.154557459G>A , CM000663.1:g.154557459G>A GRCh37
NC_000001.9:g.152824083G>A NCBI36
NG_011844.1:g.47979C>T
NG_011844.2:g.51578C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001111.5:c.3504C>T MANE Select NP_001102.3:p.Leu1168=
ENST00000368474.9:c.3504C>T MANE Select ENSP00000357459.4:p.Leu1168=
NM_001025107.2:c.2619C>T NP_001020278.1:p.Leu873=
NM_001025107.3:c.2619C>T NP_001020278.1:p.Leu873=
NM_001111.4:c.3504C>T NP_001102.2:p.Leu1168=
NM_001193495.1:c.2619C>T NP_001180424.1:p.Leu873=
NM_001193495.2:c.2619C>T NP_001180424.1:p.Leu873=
NM_001365045.1:c.3531C>T NP_001351974.1:p.Leu1177=
NM_001365046.1:c.2619C>T NP_001351975.1:p.Leu873=
NM_001365047.1:c.2619C>T NP_001351976.1:p.Leu873=
NM_001365048.1:c.2619C>T NP_001351977.1:p.Leu873=
NM_001365049.1:c.2541C>T NP_001351978.1:p.Leu847=
NM_015840.3:c.3426C>T NP_056655.2:p.Leu1142=
NM_015840.4:c.3426C>T NP_056655.3:p.Leu1142=
NM_015841.3:c.3369C>T NP_056656.2:p.Leu1123=
NM_015841.4:c.3369C>T NP_056656.3:p.Leu1123=
ENST00000368471.7:c.2619C>T ENSP00000357456.3:p.Leu873=
ENST00000368471.8:c.2619C>T ENSP00000357456.3:p.Leu873=
ENST00000368474.8:c.3504C>T ENSP00000357459.4:p.Leu1168=
ENST00000492630.1:n.263C>T
ENST00000492630.2:n.2297C>T
ENST00000529168.1:c.3411C>T ENSP00000431794.1:p.Leu1137=
ENST00000529168.2:c.3426C>T ENSP00000431794.2:p.Leu1142=
ENST00000647682.2:n.3489C>T
ENST00000648231.2:c.2619C>T ENSP00000497555.1:p.Leu873=
ENST00000648311.1:c.2619C>T ENSP00000498137.1:p.Leu873=
ENST00000648714.2:c.*979C>T ENSP00000497434.2:n.*979C>T
ENST00000649021.1:n.4240C>T
ENST00000649022.2:c.2619C>T ENSP00000496896.2:p.Leu873=
ENST00000649042.1:c.2619C>T ENSP00000497790.1:p.Leu873=
ENST00000649042.2:c.3398C>T ENSP00000497790.2:n.3398C>T
ENST00000649408.2:c.*670C>T ENSP00000497386.2:n.*670C>T
ENST00000649724.1:c.2619C>T ENSP00000497932.1:p.Leu873=
ENST00000649724.2:c.3534C>T ENSP00000497932.2:p.Leu1178=
ENST00000649749.1:c.2619C>T ENSP00000497210.1:p.Leu873=
ENST00000679375.1:c.*1736C>T ENSP00000505887.1:n.*1736C>T
ENST00000679465.1:n.4365C>T
ENST00000679805.1:n.4240C>T
ENST00000679899.1:c.2562C>T ENSP00000505996.1:p.Leu854=
ENST00000680270.1:c.2619C>T ENSP00000505532.1:p.Leu873=
ENST00000680270.2:c.3387C>T ENSP00000505532.2:p.Leu1129=
ENST00000680305.1:c.3321C>T ENSP00000506312.1:p.Leu1107=
ENST00000681056.1:c.2619C>T ENSP00000506234.1:p.Leu873=
ENST00000681056.2:c.3156C>T ENSP00000506234.2:p.Leu1052=
ENST00000681235.1:c.*3026C>T ENSP00000506606.1:n.*3026C>T
ENST00000681429.1:n.3172C>T
ENST00000681683.1:c.2619C>T ENSP00000506666.1:p.Leu873=
ENST00000681786.1:n.4365C>T
ENST00000681901.1:c.*3104C>T ENSP00000504883.1:n.*3104C>T
XM_006711109.1:c.3534C>T XP_006711172.1:p.Leu1178=
XM_006711111.2:c.2619C>T XP_006711174.1:p.Leu873=
XM_006711112.1:c.2619C>T XP_006711175.1:p.Leu873=
XM_006711113.1:c.2619C>T XP_006711176.1:p.Leu873=
XM_006711113.2:c.2619C>T XP_006711176.1:p.Leu873=
XM_011509060.1:c.3633C>T XP_011507362.1:p.Leu1211=
XM_011509061.1:c.3555C>T XP_011507363.1:p.Leu1185=
XM_011509061.2:c.2541C>T XP_011507363.2:p.Leu847=
XM_011509062.1:c.3522C>T XP_011507364.1:p.Leu1174=
XM_024449674.1:c.3633C>T XP_024305442.1:p.Leu1211=