Canonical Allele Identifier: CA124342
Gene: ADAR HGNC NCBI

Linked Data

ClinVar Variation Id: 14818
ClinVar RCV Id: RCV000015941
dbSNP Id: rs28936680

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154588668A>G , CM000663.2:g.154588668A>G GRCh38
NC_000001.10:g.154561144A>G , CM000663.1:g.154561144A>G GRCh37
NC_000001.9:g.152827768A>G NCBI36
NG_011844.1:g.44294T>C
NG_011844.2:g.47893T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000649042.2:c.2662T>C ENSP00000497790.2:n.2662T>C
ENST00000649724.2:c.2798T>C ENSP00000497932.2:p.Leu933Pro
ENST00000680270.2:c.2651T>C ENSP00000505532.2:p.Leu884Pro
ENST00000681056.2:c.2420T>C ENSP00000506234.2:p.Leu807Pro
ENST00000368471.8:c.1883T>C ENSP00000357456.3:p.Leu628Pro
ENST00000368474.9:c.2768T>C MANE Select ENSP00000357459.4:p.Leu923Pro
ENST00000529168.2:c.2690T>C ENSP00000431794.2:p.Leu897Pro
ENST00000647682.2:n.2753T>C
ENST00000648231.2:c.1883T>C ENSP00000497555.1:p.Leu628Pro
ENST00000648311.1:c.1883T>C ENSP00000498137.1:p.Leu628Pro
ENST00000648714.2:c.*243T>C ENSP00000497434.2:n.*243T>C
ENST00000649021.1:n.2804T>C
ENST00000649022.2:c.1883T>C ENSP00000496896.2:p.Leu628Pro
ENST00000649042.1:c.1883T>C ENSP00000497790.1:p.Leu628Pro
ENST00000649408.2:c.2768T>C ENSP00000497386.2:p.Leu923Pro
ENST00000649724.1:c.1883T>C ENSP00000497932.1:p.Leu628Pro
ENST00000649749.1:c.1883T>C ENSP00000497210.1:p.Leu628Pro
ENST00000679375.1:c.*1000T>C ENSP00000505887.1:n.*1000T>C
ENST00000679465.1:n.3221T>C
ENST00000679805.1:n.2804T>C
ENST00000679899.1:c.1826T>C ENSP00000505996.1:p.Leu609Pro
ENST00000680270.1:c.1883T>C ENSP00000505532.1:p.Leu628Pro
ENST00000680305.1:c.2768T>C ENSP00000506312.1:p.Leu923Pro
ENST00000681056.1:c.1883T>C ENSP00000506234.1:p.Leu628Pro
ENST00000681235.1:c.*2290T>C ENSP00000506606.1:n.*2290T>C
ENST00000681429.1:n.2028T>C
ENST00000681683.1:c.1883T>C ENSP00000506666.1:p.Leu628Pro
ENST00000681786.1:n.3221T>C
ENST00000681901.1:c.*2368T>C ENSP00000504883.1:n.*2368T>C
ENST00000368471.7:c.1883T>C ENSP00000357456.3:p.Leu628Pro
ENST00000368474.8:c.2768T>C ENSP00000357459.4:p.Leu923Pro
ENST00000529168.1:c.2675T>C ENSP00000431794.1:p.Leu892Pro
NM_001025107.2:c.1883T>C NP_001020278.1:p.Leu628Pro
NM_001111.4:c.2768T>C NP_001102.2:p.Leu923Pro
NM_001193495.1:c.1883T>C NP_001180424.1:p.Leu628Pro
NM_015840.3:c.2690T>C NP_056655.2:p.Leu897Pro
NM_015841.3:c.2633T>C NP_056656.2:p.Leu878Pro
XM_006711109.1:c.2798T>C XP_006711172.1:p.Leu933Pro
XM_006711111.2:c.1883T>C XP_006711174.1:p.Leu628Pro
XM_006711112.1:c.1883T>C XP_006711175.1:p.Leu628Pro
XM_006711113.1:c.1883T>C XP_006711176.1:p.Leu628Pro
XM_011509060.1:c.2897T>C XP_011507362.1:p.Leu966Pro
XM_011509061.1:c.2819T>C XP_011507363.1:p.Leu940Pro
XM_011509062.1:c.2786T>C XP_011507364.1:p.Leu929Pro
NM_001025107.3:c.1883T>C NP_001020278.1:p.Leu628Pro
NM_001111.5:c.2768T>C MANE Select NP_001102.3:p.Leu923Pro
NM_001193495.2:c.1883T>C NP_001180424.1:p.Leu628Pro
NM_001365045.1:c.2795T>C NP_001351974.1:p.Leu932Pro
NM_001365046.1:c.1883T>C NP_001351975.1:p.Leu628Pro
NM_001365047.1:c.1883T>C NP_001351976.1:p.Leu628Pro
NM_001365048.1:c.1883T>C NP_001351977.1:p.Leu628Pro
NM_001365049.1:c.1805T>C NP_001351978.1:p.Leu602Pro
NM_015840.4:c.2690T>C NP_056655.3:p.Leu897Pro
NM_015841.4:c.2633T>C NP_056656.3:p.Leu878Pro
XM_006711113.2:c.1883T>C XP_006711176.1:p.Leu628Pro
XM_011509061.2:c.1805T>C XP_011507363.2:p.Leu602Pro
XM_024449674.1:c.2897T>C XP_024305442.1:p.Leu966Pro