Canonical Allele Identifier: CA1130919

Gene: ADAR

Linked Data

• ClinVar Variation Id: 1668851
• ClinVar RCV Id: RCV002196116
• dbSNP Id: rs768173047
• ExAC: 1:154557387 G / A
• gnomAD v2: 1-154557387-G-A
• gnomAD v3: 1-154584911-G-A
• gnomAD v4: 1-154584911-G-A
• COSMIC: COSM4022832 ; COSM4022833
• MyVariant Identifiers: chr1:g.154557387G>A (hg19) ; chr1:g.154584911G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154584911G>A , CM000663.2:g.154584911G>A	GRCh38
NC_000001.10:g.154557387G>A , CM000663.1:g.154557387G>A	GRCh37
NC_000001.9:g.152824011G>A	NCBI36
NG_011844.1:g.48051C>T
NG_011844.2:g.51650C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000649042.2:c.3470C>T	ENSP00000497790.2:n.3470C>T
ENST00000649724.2:c.3606C>T	ENSP00000497932.2:p.Tyr1202=
ENST00000680270.2:c.3459C>T	ENSP00000505532.2:p.Tyr1153=
ENST00000681056.2:c.3228C>T	ENSP00000506234.2:p.Tyr1076=
ENST00000368471.8:c.2691C>T	ENSP00000357456.3:p.Tyr897=
ENST00000368474.9:c.3576C>T MANE Select	ENSP00000357459.4:p.Tyr1192=
ENST00000492630.2:n.2369C>T
ENST00000529168.2:c.3498C>T	ENSP00000431794.2:p.Tyr1166=
ENST00000647682.2:n.3561C>T
ENST00000648231.2:c.2691C>T	ENSP00000497555.1:p.Tyr897=
ENST00000648311.1:c.2691C>T	ENSP00000498137.1:p.Tyr897=
ENST00000648714.2:c.*1051C>T	ENSP00000497434.2:n.*1051C>T
ENST00000649021.1:n.4312C>T
ENST00000649022.2:c.2691C>T	ENSP00000496896.2:p.Tyr897=
ENST00000649042.1:c.2691C>T	ENSP00000497790.1:p.Tyr897=
ENST00000649408.2:c.*742C>T	ENSP00000497386.2:n.*742C>T
ENST00000649724.1:c.2691C>T	ENSP00000497932.1:p.Tyr897=
ENST00000649749.1:c.2691C>T	ENSP00000497210.1:p.Tyr897=
ENST00000679375.1:c.*1808C>T	ENSP00000505887.1:n.*1808C>T
ENST00000679465.1:n.4437C>T
ENST00000679805.1:n.4312C>T
ENST00000679899.1:c.2634C>T	ENSP00000505996.1:p.Tyr878=
ENST00000680270.1:c.2691C>T	ENSP00000505532.1:p.Tyr897=
ENST00000680305.1:c.3393C>T	ENSP00000506312.1:p.Tyr1131=
ENST00000681056.1:c.2691C>T	ENSP00000506234.1:p.Tyr897=
ENST00000681235.1:c.*3098C>T	ENSP00000506606.1:n.*3098C>T
ENST00000681429.1:n.3244C>T
ENST00000681683.1:c.2691C>T	ENSP00000506666.1:p.Tyr897=
ENST00000681786.1:n.4437C>T
ENST00000681901.1:c.*3176C>T	ENSP00000504883.1:n.*3176C>T
ENST00000368471.7:c.2691C>T	ENSP00000357456.3:p.Tyr897=
ENST00000368474.8:c.3576C>T	ENSP00000357459.4:p.Tyr1192=
ENST00000492630.1:n.335C>T
ENST00000529168.1:c.3483C>T	ENSP00000431794.1:p.Tyr1161=
NM_001025107.2:c.2691C>T	NP_001020278.1:p.Tyr897=
NM_001111.4:c.3576C>T	NP_001102.2:p.Tyr1192=
NM_001193495.1:c.2691C>T	NP_001180424.1:p.Tyr897=
NM_015840.3:c.3498C>T	NP_056655.2:p.Tyr1166=
NM_015841.3:c.3441C>T	NP_056656.2:p.Tyr1147=
XM_006711109.1:c.3606C>T	XP_006711172.1:p.Tyr1202=
XM_006711111.2:c.2691C>T	XP_006711174.1:p.Tyr897=
XM_006711112.1:c.2691C>T	XP_006711175.1:p.Tyr897=
XM_006711113.1:c.2691C>T	XP_006711176.1:p.Tyr897=
XM_011509060.1:c.3705C>T	XP_011507362.1:p.Tyr1235=
XM_011509061.1:c.3627C>T	XP_011507363.1:p.Tyr1209=
XM_011509062.1:c.3594C>T	XP_011507364.1:p.Tyr1198=
NM_001025107.3:c.2691C>T	NP_001020278.1:p.Tyr897=
NM_001111.5:c.3576C>T MANE Select	NP_001102.3:p.Tyr1192=
NM_001193495.2:c.2691C>T	NP_001180424.1:p.Tyr897=
NM_001365045.1:c.3603C>T	NP_001351974.1:p.Tyr1201=
NM_001365046.1:c.2691C>T	NP_001351975.1:p.Tyr897=
NM_001365047.1:c.2691C>T	NP_001351976.1:p.Tyr897=
NM_001365048.1:c.2691C>T	NP_001351977.1:p.Tyr897=
NM_001365049.1:c.2613C>T	NP_001351978.1:p.Tyr871=
NM_015840.4:c.3498C>T	NP_056655.3:p.Tyr1166=
NM_015841.4:c.3441C>T	NP_056656.3:p.Tyr1147=
XM_006711113.2:c.2691C>T	XP_006711176.1:p.Tyr897=
XM_011509061.2:c.2613C>T	XP_011507363.2:p.Tyr871=
XM_024449674.1:c.3705C>T	XP_024305442.1:p.Tyr1235=