Canonical Allele Identifier: CA130316

Gene: ADAR

Linked Data

• ClinVar Variation Id: 39458
• ClinVar RCV Id: RCV000032653 ; RCV000032654 ; RCV000762850 ; RCV001091722
• dbSNP Id: rs398122822
• gnomAD v4: 1-154588125-C-T
• MyVariant Identifiers: chr1:g.154560601C>T (hg19) ; chr1:g.154588125C>T (hg38)
• PubMed: PMID:20301648 ; PMID:23001123 ; PMID:24262145 ; PMID:25326637 ; PMID:27959697

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154588125C>T , CM000663.2:g.154588125C>T	GRCh38
NC_000001.10:g.154560601C>T , CM000663.1:g.154560601C>T	GRCh37
NC_000001.9:g.152827225C>T	NCBI36
NG_011844.1:g.44837G>A
NG_011844.2:g.48436G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649042.2:c.2913G>A	ENSP00000497790.2:n.2913G>A
ENST00000649724.2:c.3049G>A	ENSP00000497932.2:p.Gly1017Arg
ENST00000680270.2:c.2902G>A	ENSP00000505532.2:p.Gly968Arg
ENST00000681056.2:c.2671G>A	ENSP00000506234.2:p.Gly891Arg
ENST00000368471.8:c.2134G>A	ENSP00000357456.3:p.Gly712Arg
ENST00000368474.9:c.3019G>A MANE Select	ENSP00000357459.4:p.Gly1007Arg
ENST00000529168.2:c.2941G>A	ENSP00000431794.2:p.Gly981Arg
ENST00000647682.2:n.3004G>A
ENST00000648231.2:c.2134G>A	ENSP00000497555.1:p.Gly712Arg
ENST00000648311.1:c.2134G>A	ENSP00000498137.1:p.Gly712Arg
ENST00000648714.2:c.*494G>A	ENSP00000497434.2:n.*494G>A
ENST00000649021.1:n.3347G>A
ENST00000649022.2:c.2134G>A	ENSP00000496896.2:p.Gly712Arg
ENST00000649042.1:c.2134G>A	ENSP00000497790.1:p.Gly712Arg
ENST00000649408.2:c.3019G>A	ENSP00000497386.2:p.Val1007Met
ENST00000649724.1:c.2134G>A	ENSP00000497932.1:p.Gly712Arg
ENST00000649749.1:c.2134G>A	ENSP00000497210.1:p.Gly712Arg
ENST00000679375.1:c.*1251G>A	ENSP00000505887.1:n.*1251G>A
ENST00000679465.1:n.3472G>A
ENST00000679805.1:n.3347G>A
ENST00000679899.1:c.2077G>A	ENSP00000505996.1:p.Gly693Arg
ENST00000680270.1:c.2134G>A	ENSP00000505532.1:p.Gly712Arg
ENST00000680305.1:c.3019G>A	ENSP00000506312.1:p.Gly1007Ser
ENST00000681056.1:c.2134G>A	ENSP00000506234.1:p.Gly712Arg
ENST00000681235.1:c.*2541G>A	ENSP00000506606.1:n.*2541G>A
ENST00000681429.1:n.2279G>A
ENST00000681683.1:c.2134G>A	ENSP00000506666.1:p.Gly712Arg
ENST00000681786.1:n.3472G>A
ENST00000681901.1:c.*2619G>A	ENSP00000504883.1:n.*2619G>A
ENST00000368471.7:c.2134G>A	ENSP00000357456.3:p.Gly712Arg
ENST00000368474.8:c.3019G>A	ENSP00000357459.4:p.Gly1007Arg
ENST00000529168.1:c.2926G>A	ENSP00000431794.1:p.Gly976Arg
ENST00000530954.1:n.156G>A
ENST00000534279.1:n.478G>A
NM_001025107.2:c.2134G>A	NP_001020278.1:p.Gly712Arg
NM_001111.4:c.3019G>A	NP_001102.2:p.Gly1007Arg
NM_001193495.1:c.2134G>A	NP_001180424.1:p.Gly712Arg
NM_015840.3:c.2941G>A	NP_056655.2:p.Gly981Arg
NM_015841.3:c.2884G>A	NP_056656.2:p.Gly962Arg
XM_006711109.1:c.3049G>A	XP_006711172.1:p.Gly1017Arg
XM_006711111.2:c.2134G>A	XP_006711174.1:p.Gly712Arg
XM_006711112.1:c.2134G>A	XP_006711175.1:p.Gly712Arg
XM_006711113.1:c.2134G>A	XP_006711176.1:p.Gly712Arg
XM_011509060.1:c.3148G>A	XP_011507362.1:p.Gly1050Arg
XM_011509061.1:c.3070G>A	XP_011507363.1:p.Gly1024Arg
XM_011509062.1:c.3037G>A	XP_011507364.1:p.Gly1013Arg
NM_001025107.3:c.2134G>A	NP_001020278.1:p.Gly712Arg
NM_001111.5:c.3019G>A MANE Select	NP_001102.3:p.Gly1007Arg
NM_001193495.2:c.2134G>A	NP_001180424.1:p.Gly712Arg
NM_001365045.1:c.3046G>A	NP_001351974.1:p.Gly1016Arg
NM_001365046.1:c.2134G>A	NP_001351975.1:p.Gly712Arg
NM_001365047.1:c.2134G>A	NP_001351976.1:p.Gly712Arg
NM_001365048.1:c.2134G>A	NP_001351977.1:p.Gly712Arg
NM_001365049.1:c.2056G>A	NP_001351978.1:p.Gly686Arg
NM_015840.4:c.2941G>A	NP_056655.3:p.Gly981Arg
NM_015841.4:c.2884G>A	NP_056656.3:p.Gly962Arg
XM_006711113.2:c.2134G>A	XP_006711176.1:p.Gly712Arg
XM_011509061.2:c.2056G>A	XP_011507363.2:p.Gly686Arg
XM_024449674.1:c.3148G>A	XP_024305442.1:p.Gly1050Arg