Canonical Allele Identifier: CA1131214

Gene: ADAR

Linked Data

• ClinVar Variation Id: 2025366
• ClinVar RCV Id: RCV002853101
• dbSNP Id: rs751955732
• ExAC: 1:154562277 T / C
• gnomAD v2: 1-154562277-T-C
• gnomAD v3: 1-154589801-T-C
• gnomAD v4: 1-154589801-T-C
• MyVariant Identifiers: chr1:g.154562277T>C (hg19) ; chr1:g.154589801T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154589801T>C , CM000663.2:g.154589801T>C	GRCh38
NC_000001.10:g.154562277T>C , CM000663.1:g.154562277T>C	GRCh37
NC_000001.9:g.152828901T>C	NCBI36
NG_011844.1:g.43161A>G
NG_011844.2:g.46760A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649042.2:c.2518A>G	ENSP00000497790.2:n.2518A>G
ENST00000649724.2:c.2654A>G	ENSP00000497932.2:p.Lys885Arg
ENST00000680270.2:c.2507A>G	ENSP00000505532.2:p.Lys836Arg
ENST00000681056.2:c.2276A>G	ENSP00000506234.2:p.Lys759Arg
ENST00000368471.8:c.1739A>G	ENSP00000357456.3:p.Lys580Arg
ENST00000368474.9:c.2624A>G MANE Select	ENSP00000357459.4:p.Lys875Arg
ENST00000529168.2:c.2546A>G	ENSP00000431794.2:p.Lys849Arg
ENST00000647682.2:n.2609A>G
ENST00000648231.2:c.1739A>G	ENSP00000497555.1:p.Lys580Arg
ENST00000648311.1:c.1739A>G	ENSP00000498137.1:p.Lys580Arg
ENST00000648714.2:c.*99A>G	ENSP00000497434.2:n.*99A>G
ENST00000649021.1:n.2660A>G
ENST00000649022.2:c.1739A>G	ENSP00000496896.2:p.Lys580Arg
ENST00000649042.1:c.1739A>G	ENSP00000497790.1:p.Lys580Arg
ENST00000649408.2:c.2624A>G	ENSP00000497386.2:p.Lys875Arg
ENST00000649724.1:c.1739A>G	ENSP00000497932.1:p.Lys580Arg
ENST00000649749.1:c.1739A>G	ENSP00000497210.1:p.Lys580Arg
ENST00000679375.1:c.*856A>G	ENSP00000505887.1:n.*856A>G
ENST00000679465.1:n.3077A>G
ENST00000679805.1:n.2660A>G
ENST00000679899.1:c.1682A>G	ENSP00000505996.1:p.Lys561Arg
ENST00000680270.1:c.1739A>G	ENSP00000505532.1:p.Lys580Arg
ENST00000680305.1:c.2624A>G	ENSP00000506312.1:p.Lys875Arg
ENST00000681056.1:c.1739A>G	ENSP00000506234.1:p.Lys580Arg
ENST00000681235.1:c.*2146A>G	ENSP00000506606.1:n.*2146A>G
ENST00000681429.1:n.1884A>G
ENST00000681683.1:c.1739A>G	ENSP00000506666.1:p.Lys580Arg
ENST00000681786.1:n.3077A>G
ENST00000681901.1:c.*2224A>G	ENSP00000504883.1:n.*2224A>G
ENST00000368471.7:c.1739A>G	ENSP00000357456.3:p.Lys580Arg
ENST00000368474.8:c.2624A>G	ENSP00000357459.4:p.Lys875Arg
ENST00000529168.1:c.2531A>G	ENSP00000431794.1:p.Lys844Arg
NM_001025107.2:c.1739A>G	NP_001020278.1:p.Lys580Arg
NM_001111.4:c.2624A>G	NP_001102.2:p.Lys875Arg
NM_001193495.1:c.1739A>G	NP_001180424.1:p.Lys580Arg
NM_015840.3:c.2546A>G	NP_056655.2:p.Lys849Arg
NM_015841.3:c.2489A>G	NP_056656.2:p.Lys830Arg
XM_006711109.1:c.2654A>G	XP_006711172.1:p.Lys885Arg
XM_006711111.2:c.1739A>G	XP_006711174.1:p.Lys580Arg
XM_006711112.1:c.1739A>G	XP_006711175.1:p.Lys580Arg
XM_006711113.1:c.1739A>G	XP_006711176.1:p.Lys580Arg
XM_011509060.1:c.2753A>G	XP_011507362.1:p.Lys918Arg
XM_011509061.1:c.2675A>G	XP_011507363.1:p.Lys892Arg
XM_011509062.1:c.2642A>G	XP_011507364.1:p.Lys881Arg
NM_001025107.3:c.1739A>G	NP_001020278.1:p.Lys580Arg
NM_001111.5:c.2624A>G MANE Select	NP_001102.3:p.Lys875Arg
NM_001193495.2:c.1739A>G	NP_001180424.1:p.Lys580Arg
NM_001365045.1:c.2651A>G	NP_001351974.1:p.Lys884Arg
NM_001365046.1:c.1739A>G	NP_001351975.1:p.Lys580Arg
NM_001365047.1:c.1739A>G	NP_001351976.1:p.Lys580Arg
NM_001365048.1:c.1739A>G	NP_001351977.1:p.Lys580Arg
NM_001365049.1:c.1661A>G	NP_001351978.1:p.Lys554Arg
NM_015840.4:c.2546A>G	NP_056655.3:p.Lys849Arg
NM_015841.4:c.2489A>G	NP_056656.3:p.Lys830Arg
XM_006711113.2:c.1739A>G	XP_006711176.1:p.Lys580Arg
XM_011509061.2:c.1661A>G	XP_011507363.2:p.Lys554Arg
XM_024449674.1:c.2753A>G	XP_024305442.1:p.Lys918Arg