Canonical Allele Identifier: CA1131206

Gene: ADAR

Linked Data

• ClinVar Variation Id: 2049013
• ClinVar RCV Id: RCV002909485 ; RCV003358015
• dbSNP Id: rs760529708
• ExAC: 1:154562251 C / T
• gnomAD v2: 1-154562251-C-T
• gnomAD v3: 1-154589775-C-T
• gnomAD v4: 1-154589775-C-T
• MyVariant Identifiers: chr1:g.154562251C>T (hg19) ; chr1:g.154589775C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154589775C>T , CM000663.2:g.154589775C>T	GRCh38
NC_000001.10:g.154562251C>T , CM000663.1:g.154562251C>T	GRCh37
NC_000001.9:g.152828875C>T	NCBI36
NG_011844.1:g.43187G>A
NG_011844.2:g.46786G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649042.2:c.2544G>A	ENSP00000497790.2:n.2544G>A
ENST00000649724.2:c.2680G>A	ENSP00000497932.2:p.Val894Ile
ENST00000680270.2:c.2533G>A	ENSP00000505532.2:p.Val845Ile
ENST00000681056.2:c.2302G>A	ENSP00000506234.2:p.Val768Ile
ENST00000368471.8:c.1765G>A	ENSP00000357456.3:p.Val589Ile
ENST00000368474.9:c.2650G>A MANE Select	ENSP00000357459.4:p.Val884Ile
ENST00000529168.2:c.2572G>A	ENSP00000431794.2:p.Val858Ile
ENST00000647682.2:n.2635G>A
ENST00000648231.2:c.1765G>A	ENSP00000497555.1:p.Val589Ile
ENST00000648311.1:c.1765G>A	ENSP00000498137.1:p.Val589Ile
ENST00000648714.2:c.*125G>A	ENSP00000497434.2:n.*125G>A
ENST00000649021.1:n.2686G>A
ENST00000649022.2:c.1765G>A	ENSP00000496896.2:p.Val589Ile
ENST00000649042.1:c.1765G>A	ENSP00000497790.1:p.Val589Ile
ENST00000649408.2:c.2650G>A	ENSP00000497386.2:p.Val884Ile
ENST00000649724.1:c.1765G>A	ENSP00000497932.1:p.Val589Ile
ENST00000649749.1:c.1765G>A	ENSP00000497210.1:p.Val589Ile
ENST00000679375.1:c.*882G>A	ENSP00000505887.1:n.*882G>A
ENST00000679465.1:n.3103G>A
ENST00000679805.1:n.2686G>A
ENST00000679899.1:c.1708G>A	ENSP00000505996.1:p.Val570Ile
ENST00000680270.1:c.1765G>A	ENSP00000505532.1:p.Val589Ile
ENST00000680305.1:c.2650G>A	ENSP00000506312.1:p.Val884Ile
ENST00000681056.1:c.1765G>A	ENSP00000506234.1:p.Val589Ile
ENST00000681235.1:c.*2172G>A	ENSP00000506606.1:n.*2172G>A
ENST00000681429.1:n.1910G>A
ENST00000681683.1:c.1765G>A	ENSP00000506666.1:p.Val589Ile
ENST00000681786.1:n.3103G>A
ENST00000681901.1:c.*2250G>A	ENSP00000504883.1:n.*2250G>A
ENST00000368471.7:c.1765G>A	ENSP00000357456.3:p.Val589Ile
ENST00000368474.8:c.2650G>A	ENSP00000357459.4:p.Val884Ile
ENST00000529168.1:c.2557G>A	ENSP00000431794.1:p.Val853Ile
NM_001025107.2:c.1765G>A	NP_001020278.1:p.Val589Ile
NM_001111.4:c.2650G>A	NP_001102.2:p.Val884Ile
NM_001193495.1:c.1765G>A	NP_001180424.1:p.Val589Ile
NM_015840.3:c.2572G>A	NP_056655.2:p.Val858Ile
NM_015841.3:c.2515G>A	NP_056656.2:p.Val839Ile
XM_006711109.1:c.2680G>A	XP_006711172.1:p.Val894Ile
XM_006711111.2:c.1765G>A	XP_006711174.1:p.Val589Ile
XM_006711112.1:c.1765G>A	XP_006711175.1:p.Val589Ile
XM_006711113.1:c.1765G>A	XP_006711176.1:p.Val589Ile
XM_011509060.1:c.2779G>A	XP_011507362.1:p.Val927Ile
XM_011509061.1:c.2701G>A	XP_011507363.1:p.Val901Ile
XM_011509062.1:c.2668G>A	XP_011507364.1:p.Val890Ile
NM_001025107.3:c.1765G>A	NP_001020278.1:p.Val589Ile
NM_001111.5:c.2650G>A MANE Select	NP_001102.3:p.Val884Ile
NM_001193495.2:c.1765G>A	NP_001180424.1:p.Val589Ile
NM_001365045.1:c.2677G>A	NP_001351974.1:p.Val893Ile
NM_001365046.1:c.1765G>A	NP_001351975.1:p.Val589Ile
NM_001365047.1:c.1765G>A	NP_001351976.1:p.Val589Ile
NM_001365048.1:c.1765G>A	NP_001351977.1:p.Val589Ile
NM_001365049.1:c.1687G>A	NP_001351978.1:p.Val563Ile
NM_015840.4:c.2572G>A	NP_056655.3:p.Val858Ile
NM_015841.4:c.2515G>A	NP_056656.3:p.Val839Ile
XM_006711113.2:c.1765G>A	XP_006711176.1:p.Val589Ile
XM_011509061.2:c.1687G>A	XP_011507363.2:p.Val563Ile
XM_024449674.1:c.2779G>A	XP_024305442.1:p.Val927Ile