Canonical Allele Identifier: CA342635956

Gene: ADAR

Linked Data

• ClinVar Variation Id: 2196340
• ClinVar RCV Id: RCV002633595
• dbSNP Id: rs1696885868
• gnomAD v4: 1-154588143-G-A
• MyVariant Identifiers: chr1:g.154560619G>A (hg19) ; chr1:g.154588143G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154588143G>A , CM000663.2:g.154588143G>A	GRCh38
NC_000001.10:g.154560619G>A , CM000663.1:g.154560619G>A	GRCh37
NC_000001.9:g.152827243G>A	NCBI36
NG_011844.1:g.44819C>T
NG_011844.2:g.48418C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000649042.2:c.2895C>T	ENSP00000497790.2:n.2895C>T
ENST00000649724.2:c.3031C>T	ENSP00000497932.2:p.Arg1011Cys
ENST00000680270.2:c.2884C>T	ENSP00000505532.2:p.Arg962Cys
ENST00000681056.2:c.2653C>T	ENSP00000506234.2:p.Arg885Cys
ENST00000368471.8:c.2116C>T	ENSP00000357456.3:p.Arg706Cys
ENST00000368474.9:c.3001C>T MANE Select	ENSP00000357459.4:p.Arg1001Cys
ENST00000529168.2:c.2923C>T	ENSP00000431794.2:p.Arg975Cys
ENST00000647682.2:n.2986C>T
ENST00000648231.2:c.2116C>T	ENSP00000497555.1:p.Arg706Cys
ENST00000648311.1:c.2116C>T	ENSP00000498137.1:p.Arg706Cys
ENST00000648714.2:c.*476C>T	ENSP00000497434.2:n.*476C>T
ENST00000649021.1:n.3329C>T
ENST00000649022.2:c.2116C>T	ENSP00000496896.2:p.Arg706Cys
ENST00000649042.1:c.2116C>T	ENSP00000497790.1:p.Arg706Cys
ENST00000649408.2:c.3001C>T	ENSP00000497386.2:p.Arg1001Cys
ENST00000649724.1:c.2116C>T	ENSP00000497932.1:p.Arg706Cys
ENST00000649749.1:c.2116C>T	ENSP00000497210.1:p.Arg706Cys
ENST00000679375.1:c.*1233C>T	ENSP00000505887.1:n.*1233C>T
ENST00000679465.1:n.3454C>T
ENST00000679805.1:n.3329C>T
ENST00000679899.1:c.2059C>T	ENSP00000505996.1:p.Arg687Cys
ENST00000680270.1:c.2116C>T	ENSP00000505532.1:p.Arg706Cys
ENST00000680305.1:c.3001C>T	ENSP00000506312.1:p.Arg1001Cys
ENST00000681056.1:c.2116C>T	ENSP00000506234.1:p.Arg706Cys
ENST00000681235.1:c.*2523C>T	ENSP00000506606.1:n.*2523C>T
ENST00000681429.1:n.2261C>T
ENST00000681683.1:c.2116C>T	ENSP00000506666.1:p.Arg706Cys
ENST00000681786.1:n.3454C>T
ENST00000681901.1:c.*2601C>T	ENSP00000504883.1:n.*2601C>T
ENST00000368471.7:c.2116C>T	ENSP00000357456.3:p.Arg706Cys
ENST00000368474.8:c.3001C>T	ENSP00000357459.4:p.Arg1001Cys
ENST00000529168.1:c.2908C>T	ENSP00000431794.1:p.Arg970Cys
ENST00000530954.1:n.138C>T
ENST00000534279.1:n.460C>T
NM_001025107.2:c.2116C>T	NP_001020278.1:p.Arg706Cys
NM_001111.4:c.3001C>T	NP_001102.2:p.Arg1001Cys
NM_001193495.1:c.2116C>T	NP_001180424.1:p.Arg706Cys
NM_015840.3:c.2923C>T	NP_056655.2:p.Arg975Cys
NM_015841.3:c.2866C>T	NP_056656.2:p.Arg956Cys
XM_006711109.1:c.3031C>T	XP_006711172.1:p.Arg1011Cys
XM_006711111.2:c.2116C>T	XP_006711174.1:p.Arg706Cys
XM_006711112.1:c.2116C>T	XP_006711175.1:p.Arg706Cys
XM_006711113.1:c.2116C>T	XP_006711176.1:p.Arg706Cys
XM_011509060.1:c.3130C>T	XP_011507362.1:p.Arg1044Cys
XM_011509061.1:c.3052C>T	XP_011507363.1:p.Arg1018Cys
XM_011509062.1:c.3019C>T	XP_011507364.1:p.Arg1007Cys
NM_001025107.3:c.2116C>T	NP_001020278.1:p.Arg706Cys
NM_001111.5:c.3001C>T MANE Select	NP_001102.3:p.Arg1001Cys
NM_001193495.2:c.2116C>T	NP_001180424.1:p.Arg706Cys
NM_001365045.1:c.3028C>T	NP_001351974.1:p.Arg1010Cys
NM_001365046.1:c.2116C>T	NP_001351975.1:p.Arg706Cys
NM_001365047.1:c.2116C>T	NP_001351976.1:p.Arg706Cys
NM_001365048.1:c.2116C>T	NP_001351977.1:p.Arg706Cys
NM_001365049.1:c.2038C>T	NP_001351978.1:p.Arg680Cys
NM_015840.4:c.2923C>T	NP_056655.3:p.Arg975Cys
NM_015841.4:c.2866C>T	NP_056656.3:p.Arg956Cys
XM_006711113.2:c.2116C>T	XP_006711176.1:p.Arg706Cys
XM_011509061.2:c.2038C>T	XP_011507363.2:p.Arg680Cys
XM_024449674.1:c.3130C>T	XP_024305442.1:p.Arg1044Cys