Canonical Allele Identifier: CA342635469

Gene: ADAR

Linked Data

• ClinVar Variation Id: 488463
• ClinVar RCV Id: RCV000578411
• dbSNP Id: rs1553207540
• MyVariant Identifiers: chr1:g.154558329C>A (hg19) ; chr1:g.154585853C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154585853C>A , CM000663.2:g.154585853C>A	GRCh38
NC_000001.10:g.154558329C>A , CM000663.1:g.154558329C>A	GRCh37
NC_000001.9:g.152824953C>A	NCBI36
NG_011844.1:g.47109G>T
NG_011844.2:g.50708G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649042.2:c.3109G>T	ENSP00000497790.2:n.3109G>T
ENST00000649724.2:c.3245G>T	ENSP00000497932.2:p.Ser1082Ile
ENST00000680270.2:c.3098G>T	ENSP00000505532.2:p.Ser1033Ile
ENST00000681056.2:c.2867G>T	ENSP00000506234.2:p.Ser956Ile
ENST00000368471.8:c.2330G>T	ENSP00000357456.3:p.Ser777Ile
ENST00000368474.9:c.3215G>T MANE Select	ENSP00000357459.4:p.Ser1072Ile
ENST00000492630.2:n.1600G>T
ENST00000529168.2:c.3137G>T	ENSP00000431794.2:p.Ser1046Ile
ENST00000647682.2:n.3200G>T
ENST00000648231.2:c.2330G>T	ENSP00000497555.1:p.Ser777Ile
ENST00000648311.1:c.2330G>T	ENSP00000498137.1:p.Ser777Ile
ENST00000648714.2:c.*690G>T	ENSP00000497434.2:n.*690G>T
ENST00000649021.1:n.3543G>T
ENST00000649022.2:c.2330G>T	ENSP00000496896.2:p.Ser777Ile
ENST00000649042.1:c.2330G>T	ENSP00000497790.1:p.Ser777Ile
ENST00000649408.2:c.*381G>T	ENSP00000497386.2:n.*381G>T
ENST00000649724.1:c.2330G>T	ENSP00000497932.1:p.Ser777Ile
ENST00000649749.1:c.2330G>T	ENSP00000497210.1:p.Ser777Ile
ENST00000679375.1:c.*1447G>T	ENSP00000505887.1:n.*1447G>T
ENST00000679465.1:n.3668G>T
ENST00000679805.1:n.3543G>T
ENST00000679899.1:c.2273G>T	ENSP00000505996.1:p.Ser758Ile
ENST00000680270.1:c.2330G>T	ENSP00000505532.1:p.Ser777Ile
ENST00000680305.1:c.3032G>T	ENSP00000506312.1:p.Ser1011Ile
ENST00000681056.1:c.2330G>T	ENSP00000506234.1:p.Ser777Ile
ENST00000681235.1:c.*2737G>T	ENSP00000506606.1:n.*2737G>T
ENST00000681429.1:n.2475G>T
ENST00000681683.1:c.2330G>T	ENSP00000506666.1:p.Ser777Ile
ENST00000681786.1:n.3668G>T
ENST00000681901.1:c.*2815G>T	ENSP00000504883.1:n.*2815G>T
ENST00000368471.7:c.2330G>T	ENSP00000357456.3:p.Ser777Ile
ENST00000368474.8:c.3215G>T	ENSP00000357459.4:p.Ser1072Ile
ENST00000529168.1:c.3122G>T	ENSP00000431794.1:p.Ser1041Ile
ENST00000530954.1:n.352G>T
NM_001025107.2:c.2330G>T	NP_001020278.1:p.Ser777Ile
NM_001111.4:c.3215G>T	NP_001102.2:p.Ser1072Ile
NM_001193495.1:c.2330G>T	NP_001180424.1:p.Ser777Ile
NM_015840.3:c.3137G>T	NP_056655.2:p.Ser1046Ile
NM_015841.3:c.3080G>T	NP_056656.2:p.Ser1027Ile
XM_006711109.1:c.3245G>T	XP_006711172.1:p.Ser1082Ile
XM_006711111.2:c.2330G>T	XP_006711174.1:p.Ser777Ile
XM_006711112.1:c.2330G>T	XP_006711175.1:p.Ser777Ile
XM_006711113.1:c.2330G>T	XP_006711176.1:p.Ser777Ile
XM_011509060.1:c.3344G>T	XP_011507362.1:p.Ser1115Ile
XM_011509061.1:c.3266G>T	XP_011507363.1:p.Ser1089Ile
XM_011509062.1:c.3233G>T	XP_011507364.1:p.Ser1078Ile
NM_001025107.3:c.2330G>T	NP_001020278.1:p.Ser777Ile
NM_001111.5:c.3215G>T MANE Select	NP_001102.3:p.Ser1072Ile
NM_001193495.2:c.2330G>T	NP_001180424.1:p.Ser777Ile
NM_001365045.1:c.3242G>T	NP_001351974.1:p.Ser1081Ile
NM_001365046.1:c.2330G>T	NP_001351975.1:p.Ser777Ile
NM_001365047.1:c.2330G>T	NP_001351976.1:p.Ser777Ile
NM_001365048.1:c.2330G>T	NP_001351977.1:p.Ser777Ile
NM_001365049.1:c.2252G>T	NP_001351978.1:p.Ser751Ile
NM_015840.4:c.3137G>T	NP_056655.3:p.Ser1046Ile
NM_015841.4:c.3080G>T	NP_056656.3:p.Ser1027Ile
XM_006711113.2:c.2330G>T	XP_006711176.1:p.Ser777Ile
XM_011509061.2:c.2252G>T	XP_011507363.2:p.Ser751Ile
XM_024449674.1:c.3344G>T	XP_024305442.1:p.Ser1115Ile