Canonical Allele Identifier: CA1130918

Gene: ADAR

Linked Data

• ClinVar Variation Id: 961650
• ClinVar RCV Id: RCV001235380 ; RCV001332835
• dbSNP Id: rs367899281
• ExAC: 1:154557382 G / A
• gnomAD v2: 1-154557382-G-A
• gnomAD v3: 1-154584906-G-A
• gnomAD v4: 1-154584906-G-A
• MyVariant Identifiers: chr1:g.154557382G>A (hg19) ; chr1:g.154584906G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154584906G>A , CM000663.2:g.154584906G>A	GRCh38
NC_000001.10:g.154557382G>A , CM000663.1:g.154557382G>A	GRCh37
NC_000001.9:g.152824006G>A	NCBI36
NG_011844.1:g.48056C>T
NG_011844.2:g.51655C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000649042.2:c.3475C>T	ENSP00000497790.2:n.3475C>T
ENST00000649724.2:c.3611C>T	ENSP00000497932.2:p.Thr1204Met
ENST00000680270.2:c.3464C>T	ENSP00000505532.2:p.Thr1155Met
ENST00000681056.2:c.3233C>T	ENSP00000506234.2:p.Thr1078Met
ENST00000368471.8:c.2696C>T	ENSP00000357456.3:p.Thr899Met
ENST00000368474.9:c.3581C>T MANE Select	ENSP00000357459.4:p.Thr1194Met
ENST00000492630.2:n.2374C>T
ENST00000529168.2:c.3503C>T	ENSP00000431794.2:p.Thr1168Met
ENST00000647682.2:n.3566C>T
ENST00000648231.2:c.2696C>T	ENSP00000497555.1:p.Thr899Met
ENST00000648311.1:c.2696C>T	ENSP00000498137.1:p.Thr899Met
ENST00000648714.2:c.*1056C>T	ENSP00000497434.2:n.*1056C>T
ENST00000649021.1:n.4317C>T
ENST00000649022.2:c.2696C>T	ENSP00000496896.2:p.Thr899Met
ENST00000649042.1:c.2696C>T	ENSP00000497790.1:p.Thr899Met
ENST00000649408.2:c.*747C>T	ENSP00000497386.2:n.*747C>T
ENST00000649724.1:c.2696C>T	ENSP00000497932.1:p.Thr899Met
ENST00000649749.1:c.2696C>T	ENSP00000497210.1:p.Thr899Met
ENST00000679375.1:c.*1813C>T	ENSP00000505887.1:n.*1813C>T
ENST00000679465.1:n.4442C>T
ENST00000679805.1:n.4317C>T
ENST00000679899.1:c.2639C>T	ENSP00000505996.1:p.Thr880Met
ENST00000680270.1:c.2696C>T	ENSP00000505532.1:p.Thr899Met
ENST00000680305.1:c.3398C>T	ENSP00000506312.1:p.Thr1133Met
ENST00000681056.1:c.2696C>T	ENSP00000506234.1:p.Thr899Met
ENST00000681235.1:c.*3103C>T	ENSP00000506606.1:n.*3103C>T
ENST00000681429.1:n.3249C>T
ENST00000681683.1:c.2696C>T	ENSP00000506666.1:p.Thr899Met
ENST00000681786.1:n.4442C>T
ENST00000681901.1:c.*3181C>T	ENSP00000504883.1:n.*3181C>T
ENST00000368471.7:c.2696C>T	ENSP00000357456.3:p.Thr899Met
ENST00000368474.8:c.3581C>T	ENSP00000357459.4:p.Thr1194Met
ENST00000492630.1:n.340C>T
ENST00000529168.1:c.3488C>T	ENSP00000431794.1:p.Thr1163Met
NM_001025107.2:c.2696C>T	NP_001020278.1:p.Thr899Met
NM_001111.4:c.3581C>T	NP_001102.2:p.Thr1194Met
NM_001193495.1:c.2696C>T	NP_001180424.1:p.Thr899Met
NM_015840.3:c.3503C>T	NP_056655.2:p.Thr1168Met
NM_015841.3:c.3446C>T	NP_056656.2:p.Thr1149Met
XM_006711109.1:c.3611C>T	XP_006711172.1:p.Thr1204Met
XM_006711111.2:c.2696C>T	XP_006711174.1:p.Thr899Met
XM_006711112.1:c.2696C>T	XP_006711175.1:p.Thr899Met
XM_006711113.1:c.2696C>T	XP_006711176.1:p.Thr899Met
XM_011509060.1:c.3710C>T	XP_011507362.1:p.Thr1237Met
XM_011509061.1:c.3632C>T	XP_011507363.1:p.Thr1211Met
XM_011509062.1:c.3599C>T	XP_011507364.1:p.Thr1200Met
NM_001025107.3:c.2696C>T	NP_001020278.1:p.Thr899Met
NM_001111.5:c.3581C>T MANE Select	NP_001102.3:p.Thr1194Met
NM_001193495.2:c.2696C>T	NP_001180424.1:p.Thr899Met
NM_001365045.1:c.3608C>T	NP_001351974.1:p.Thr1203Met
NM_001365046.1:c.2696C>T	NP_001351975.1:p.Thr899Met
NM_001365047.1:c.2696C>T	NP_001351976.1:p.Thr899Met
NM_001365048.1:c.2696C>T	NP_001351977.1:p.Thr899Met
NM_001365049.1:c.2618C>T	NP_001351978.1:p.Thr873Met
NM_015840.4:c.3503C>T	NP_056655.3:p.Thr1168Met
NM_015841.4:c.3446C>T	NP_056656.3:p.Thr1149Met
XM_006711113.2:c.2696C>T	XP_006711176.1:p.Thr899Met
XM_011509061.2:c.2618C>T	XP_011507363.2:p.Thr873Met
XM_024449674.1:c.3710C>T	XP_024305442.1:p.Thr1237Met