Canonical Allele Identifier: CA342636718

Gene: ADAR

Linked Data

• dbSNP Id: rs1696977290
• gnomAD v4: 1-154589457-G-A
• COSMIC: COSM5567001 ; COSM5567002
• MyVariant Identifiers: chr1:g.154561933G>A (hg19) ; chr1:g.154589457G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154589457G>A , CM000663.2:g.154589457G>A	GRCh38
NC_000001.10:g.154561933G>A , CM000663.1:g.154561933G>A	GRCh37
NC_000001.9:g.152828557G>A	NCBI36
NG_011844.1:g.43505C>T
NG_011844.2:g.47104C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000649042.2:c.2568C>T	ENSP00000497790.2:n.2568C>T
ENST00000649724.2:c.2704C>T	ENSP00000497932.2:p.Arg902Cys
ENST00000680270.2:c.2557C>T	ENSP00000505532.2:p.Arg853Cys
ENST00000681056.2:c.2326C>T	ENSP00000506234.2:p.Arg776Cys
ENST00000368471.8:c.1789C>T	ENSP00000357456.3:p.Arg597Cys
ENST00000368474.9:c.2674C>T MANE Select	ENSP00000357459.4:p.Arg892Cys
ENST00000529168.2:c.2596C>T	ENSP00000431794.2:p.Arg866Cys
ENST00000647682.2:n.2659C>T
ENST00000648231.2:c.1789C>T	ENSP00000497555.1:p.Arg597Cys
ENST00000648311.1:c.1789C>T	ENSP00000498137.1:p.Arg597Cys
ENST00000648714.2:c.*149C>T	ENSP00000497434.2:n.*149C>T
ENST00000649021.1:n.2710C>T
ENST00000649022.2:c.1789C>T	ENSP00000496896.2:p.Arg597Cys
ENST00000649042.1:c.1789C>T	ENSP00000497790.1:p.Arg597Cys
ENST00000649408.2:c.2674C>T	ENSP00000497386.2:p.Arg892Cys
ENST00000649724.1:c.1789C>T	ENSP00000497932.1:p.Arg597Cys
ENST00000649749.1:c.1789C>T	ENSP00000497210.1:p.Arg597Cys
ENST00000679375.1:c.*906C>T	ENSP00000505887.1:n.*906C>T
ENST00000679465.1:n.3127C>T
ENST00000679805.1:n.2710C>T
ENST00000679899.1:c.1732C>T	ENSP00000505996.1:p.Arg578Cys
ENST00000680270.1:c.1789C>T	ENSP00000505532.1:p.Arg597Cys
ENST00000680305.1:c.2674C>T	ENSP00000506312.1:p.Arg892Cys
ENST00000681056.1:c.1789C>T	ENSP00000506234.1:p.Arg597Cys
ENST00000681235.1:c.*2196C>T	ENSP00000506606.1:n.*2196C>T
ENST00000681429.1:n.1934C>T
ENST00000681683.1:c.1789C>T	ENSP00000506666.1:p.Arg597Cys
ENST00000681786.1:n.3127C>T
ENST00000681901.1:c.*2274C>T	ENSP00000504883.1:n.*2274C>T
ENST00000368471.7:c.1789C>T	ENSP00000357456.3:p.Arg597Cys
ENST00000368474.8:c.2674C>T	ENSP00000357459.4:p.Arg892Cys
ENST00000529168.1:c.2581C>T	ENSP00000431794.1:p.Arg861Cys
NM_001025107.2:c.1789C>T	NP_001020278.1:p.Arg597Cys
NM_001111.4:c.2674C>T	NP_001102.2:p.Arg892Cys
NM_001193495.1:c.1789C>T	NP_001180424.1:p.Arg597Cys
NM_015840.3:c.2596C>T	NP_056655.2:p.Arg866Cys
NM_015841.3:c.2539C>T	NP_056656.2:p.Arg847Cys
XM_006711109.1:c.2704C>T	XP_006711172.1:p.Arg902Cys
XM_006711111.2:c.1789C>T	XP_006711174.1:p.Arg597Cys
XM_006711112.1:c.1789C>T	XP_006711175.1:p.Arg597Cys
XM_006711113.1:c.1789C>T	XP_006711176.1:p.Arg597Cys
XM_011509060.1:c.2803C>T	XP_011507362.1:p.Arg935Cys
XM_011509061.1:c.2725C>T	XP_011507363.1:p.Arg909Cys
XM_011509062.1:c.2692C>T	XP_011507364.1:p.Arg898Cys
NM_001025107.3:c.1789C>T	NP_001020278.1:p.Arg597Cys
NM_001111.5:c.2674C>T MANE Select	NP_001102.3:p.Arg892Cys
NM_001193495.2:c.1789C>T	NP_001180424.1:p.Arg597Cys
NM_001365045.1:c.2701C>T	NP_001351974.1:p.Arg901Cys
NM_001365046.1:c.1789C>T	NP_001351975.1:p.Arg597Cys
NM_001365047.1:c.1789C>T	NP_001351976.1:p.Arg597Cys
NM_001365048.1:c.1789C>T	NP_001351977.1:p.Arg597Cys
NM_001365049.1:c.1711C>T	NP_001351978.1:p.Arg571Cys
NM_015840.4:c.2596C>T	NP_056655.3:p.Arg866Cys
NM_015841.4:c.2539C>T	NP_056656.3:p.Arg847Cys
XM_006711113.2:c.1789C>T	XP_006711176.1:p.Arg597Cys
XM_011509061.2:c.1711C>T	XP_011507363.2:p.Arg571Cys
XM_024449674.1:c.2803C>T	XP_024305442.1:p.Arg935Cys