Canonical Allele Identifier: CA1131055
Community Standard Title: NM_001111.5(ADAR):c.3081C>T (p.Leu1027=)
Gene: ADAR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154586302G>A , CM000663.2:g.154586302G>A GRCh38
NC_000001.10:g.154558778G>A , CM000663.1:g.154558778G>A GRCh37
NC_000001.9:g.152825402G>A NCBI36
NG_011844.1:g.46660C>T
NG_011844.2:g.50259C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001111.5:c.3081C>T MANE Select NP_001102.3:p.Leu1027=
ENST00000368474.9:c.3081C>T MANE Select ENSP00000357459.4:p.Leu1027=
NM_001025107.2:c.2196C>T NP_001020278.1:p.Leu732=
NM_001025107.3:c.2196C>T NP_001020278.1:p.Leu732=
NM_001111.4:c.3081C>T NP_001102.2:p.Leu1027=
NM_001193495.1:c.2196C>T NP_001180424.1:p.Leu732=
NM_001193495.2:c.2196C>T NP_001180424.1:p.Leu732=
NM_001365045.1:c.3108C>T NP_001351974.1:p.Leu1036=
NM_001365046.1:c.2196C>T NP_001351975.1:p.Leu732=
NM_001365047.1:c.2196C>T NP_001351976.1:p.Leu732=
NM_001365048.1:c.2196C>T NP_001351977.1:p.Leu732=
NM_001365049.1:c.2118C>T NP_001351978.1:p.Leu706=
NM_015840.3:c.3003C>T NP_056655.2:p.Leu1001=
NM_015840.4:c.3003C>T NP_056655.3:p.Leu1001=
NM_015841.3:c.2946C>T NP_056656.2:p.Leu982=
NM_015841.4:c.2946C>T NP_056656.3:p.Leu982=
ENST00000368471.7:c.2196C>T ENSP00000357456.3:p.Leu732=
ENST00000368471.8:c.2196C>T ENSP00000357456.3:p.Leu732=
ENST00000368474.8:c.3081C>T ENSP00000357459.4:p.Leu1027=
ENST00000492630.2:n.1466C>T
ENST00000529168.1:c.2988C>T ENSP00000431794.1:p.Leu996=
ENST00000529168.2:c.3003C>T ENSP00000431794.2:p.Leu1001=
ENST00000530954.1:n.218C>T
ENST00000534279.1:n.540C>T
ENST00000647682.2:n.3066C>T
ENST00000648231.2:c.2196C>T ENSP00000497555.1:p.Leu732=
ENST00000648311.1:c.2196C>T ENSP00000498137.1:p.Leu732=
ENST00000648714.2:c.*556C>T ENSP00000497434.2:n.*556C>T
ENST00000649021.1:n.3409C>T
ENST00000649022.2:c.2196C>T ENSP00000496896.2:p.Leu732=
ENST00000649042.1:c.2196C>T ENSP00000497790.1:p.Leu732=
ENST00000649042.2:c.2975C>T ENSP00000497790.2:n.2975C>T
ENST00000649408.2:c.*247C>T ENSP00000497386.2:n.*247C>T
ENST00000649724.1:c.2196C>T ENSP00000497932.1:p.Leu732=
ENST00000649724.2:c.3111C>T ENSP00000497932.2:p.Leu1037=
ENST00000649749.1:c.2196C>T ENSP00000497210.1:p.Leu732=
ENST00000679375.1:c.*1313C>T ENSP00000505887.1:n.*1313C>T
ENST00000679465.1:n.3534C>T
ENST00000679805.1:n.3409C>T
ENST00000679899.1:c.2139C>T ENSP00000505996.1:p.Leu713=
ENST00000680270.1:c.2196C>T ENSP00000505532.1:p.Leu732=
ENST00000680270.2:c.2964C>T ENSP00000505532.2:p.Leu988=
ENST00000680305.1:c.3020-437C>T ENSP00000506312.1:n.3020-437C>T
ENST00000681056.1:c.2196C>T ENSP00000506234.1:p.Leu732=
ENST00000681056.2:c.2733C>T ENSP00000506234.2:p.Leu911=
ENST00000681235.1:c.*2603C>T ENSP00000506606.1:n.*2603C>T
ENST00000681429.1:n.2341C>T
ENST00000681683.1:c.2196C>T ENSP00000506666.1:p.Leu732=
ENST00000681786.1:n.3534C>T
ENST00000681901.1:c.*2681C>T ENSP00000504883.1:n.*2681C>T
XM_006711109.1:c.3111C>T XP_006711172.1:p.Leu1037=
XM_006711111.2:c.2196C>T XP_006711174.1:p.Leu732=
XM_006711112.1:c.2196C>T XP_006711175.1:p.Leu732=
XM_006711113.1:c.2196C>T XP_006711176.1:p.Leu732=
XM_006711113.2:c.2196C>T XP_006711176.1:p.Leu732=
XM_011509060.1:c.3210C>T XP_011507362.1:p.Leu1070=
XM_011509061.1:c.3132C>T XP_011507363.1:p.Leu1044=
XM_011509061.2:c.2118C>T XP_011507363.2:p.Leu706=
XM_011509062.1:c.3099C>T XP_011507364.1:p.Leu1033=
XM_024449674.1:c.3210C>T XP_024305442.1:p.Leu1070=