Canonical Allele Identifier: CA10607938

Gene: ADAR

Linked Data

• ClinVar Variation Id: 292772
• ClinVar RCV Id: RCV000405145 ; RCV002519396 ; RCV003243052 ; RCV001770230
• dbSNP Id: rs886045341
• gnomAD v4: 1-154597852-T-C
• MyVariant Identifiers: chr1:g.154570328T>C (hg19) ; chr1:g.154597852T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154597852T>C , CM000663.2:g.154597852T>C	GRCh38
NC_000001.10:g.154570328T>C , CM000663.1:g.154570328T>C	GRCh37
NC_000001.9:g.152836952T>C	NCBI36
NG_011844.1:g.35110A>G
NG_011844.2:g.38709A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649042.2:c.1804A>G	ENSP00000497790.2:n.1804A>G
ENST00000649724.2:c.1940A>G	ENSP00000497932.2:p.Lys647Arg
ENST00000680270.2:c.1793A>G	ENSP00000505532.2:p.Lys598Arg
ENST00000681056.2:c.1562A>G	ENSP00000506234.2:p.Lys521Arg
ENST00000368471.8:c.1025A>G	ENSP00000357456.3:p.Lys342Arg
ENST00000368474.9:c.1910A>G MANE Select	ENSP00000357459.4:p.Lys637Arg
ENST00000529168.2:c.1910A>G	ENSP00000431794.2:p.Lys637Arg
ENST00000647682.2:n.1640A>G
ENST00000648231.2:c.1025A>G	ENSP00000497555.1:p.Lys342Arg
ENST00000648311.1:c.1025A>G	ENSP00000498137.1:p.Lys342Arg
ENST00000648714.2:c.1910A>G	ENSP00000497434.2:p.Lys637Arg
ENST00000648871.1:c.1025A>G	ENSP00000497793.1:p.Lys342Arg
ENST00000649021.1:n.1946A>G
ENST00000649022.2:c.1025A>G	ENSP00000496896.2:p.Lys342Arg
ENST00000649042.1:c.1025A>G	ENSP00000497790.1:p.Lys342Arg
ENST00000649408.2:c.1910A>G	ENSP00000497386.2:p.Lys637Arg
ENST00000649724.1:c.1025A>G	ENSP00000497932.1:p.Lys342Arg
ENST00000649749.1:c.1025A>G	ENSP00000497210.1:p.Lys342Arg
ENST00000679375.1:c.*220A>G	ENSP00000505887.1:n.*220A>G
ENST00000679465.1:n.2108A>G
ENST00000679805.1:n.1946A>G
ENST00000679899.1:c.1025A>G	ENSP00000505996.1:p.Lys342Arg
ENST00000680270.1:c.1025A>G	ENSP00000505532.1:p.Lys342Arg
ENST00000680305.1:c.1910A>G	ENSP00000506312.1:p.Lys637Arg
ENST00000681056.1:c.1025A>G	ENSP00000506234.1:p.Lys342Arg
ENST00000681235.1:c.*1510A>G	ENSP00000506606.1:n.*1510A>G
ENST00000681429.1:n.1170A>G
ENST00000681683.1:c.1025A>G	ENSP00000506666.1:p.Lys342Arg
ENST00000681786.1:n.2108A>G
ENST00000681901.1:c.*1510A>G	ENSP00000504883.1:n.*1510A>G
ENST00000368471.7:c.1025A>G	ENSP00000357456.3:p.Lys342Arg
ENST00000368474.8:c.1910A>G	ENSP00000357459.4:p.Lys637Arg
ENST00000529168.1:c.1895A>G	ENSP00000431794.1:p.Lys632Arg
NM_001025107.2:c.1025A>G	NP_001020278.1:p.Lys342Arg
NM_001111.4:c.1910A>G	NP_001102.2:p.Lys637Arg
NM_001193495.1:c.1025A>G	NP_001180424.1:p.Lys342Arg
NM_015840.3:c.1910A>G	NP_056655.2:p.Lys637Arg
NM_015841.3:c.1910A>G	NP_056656.2:p.Lys637Arg
XM_006711109.1:c.1940A>G	XP_006711172.1:p.Lys647Arg
XM_006711111.2:c.1025A>G	XP_006711174.1:p.Lys342Arg
XM_006711112.1:c.1025A>G	XP_006711175.1:p.Lys342Arg
XM_006711113.1:c.1025A>G	XP_006711176.1:p.Lys342Arg
XM_011509060.1:c.2039A>G	XP_011507362.1:p.Lys680Arg
XM_011509061.1:c.2039A>G	XP_011507363.1:p.Lys680Arg
XM_011509062.1:c.1928A>G	XP_011507364.1:p.Lys643Arg
NM_001025107.3:c.1025A>G	NP_001020278.1:p.Lys342Arg
NM_001111.5:c.1910A>G MANE Select	NP_001102.3:p.Lys637Arg
NM_001193495.2:c.1025A>G	NP_001180424.1:p.Lys342Arg
NM_001365045.1:c.1937A>G	NP_001351974.1:p.Lys646Arg
NM_001365046.1:c.1025A>G	NP_001351975.1:p.Lys342Arg
NM_001365047.1:c.1025A>G	NP_001351976.1:p.Lys342Arg
NM_001365048.1:c.1025A>G	NP_001351977.1:p.Lys342Arg
NM_001365049.1:c.1025A>G	NP_001351978.1:p.Lys342Arg
NM_015840.4:c.1910A>G	NP_056655.3:p.Lys637Arg
NM_015841.4:c.1910A>G	NP_056656.3:p.Lys637Arg
XM_006711113.2:c.1025A>G	XP_006711176.1:p.Lys342Arg
XM_011509061.2:c.1025A>G	XP_011507363.2:p.Lys342Arg
XM_024449674.1:c.2039A>G	XP_024305442.1:p.Lys680Arg