Canonical Allele Identifier: CA30853095

Gene: ADAR

Linked Data

• dbSNP Id: rs200312914
• gnomAD v3: 1-154589790-C-G
• gnomAD v4: 1-154589790-C-G
• MyVariant Identifiers: chr1:g.154562266C>G (hg19) ; chr1:g.154589790C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154589790C>G , CM000663.2:g.154589790C>G	GRCh38
NC_000001.10:g.154562266C>G , CM000663.1:g.154562266C>G	GRCh37
NC_000001.9:g.152828890C>G	NCBI36
NG_011844.1:g.43172G>C
NG_011844.2:g.46771G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649042.2:c.2529G>C	ENSP00000497790.2:n.2529G>C
ENST00000649724.2:c.2665G>C	ENSP00000497932.2:p.Glu889Gln
ENST00000680270.2:c.2518G>C	ENSP00000505532.2:p.Glu840Gln
ENST00000681056.2:c.2287G>C	ENSP00000506234.2:p.Glu763Gln
ENST00000368471.8:c.1750G>C	ENSP00000357456.3:p.Glu584Gln
ENST00000368474.9:c.2635G>C MANE Select	ENSP00000357459.4:p.Glu879Gln
ENST00000529168.2:c.2557G>C	ENSP00000431794.2:p.Glu853Gln
ENST00000647682.2:n.2620G>C
ENST00000648231.2:c.1750G>C	ENSP00000497555.1:p.Glu584Gln
ENST00000648311.1:c.1750G>C	ENSP00000498137.1:p.Glu584Gln
ENST00000648714.2:c.*110G>C	ENSP00000497434.2:n.*110G>C
ENST00000649021.1:n.2671G>C
ENST00000649022.2:c.1750G>C	ENSP00000496896.2:p.Glu584Gln
ENST00000649042.1:c.1750G>C	ENSP00000497790.1:p.Glu584Gln
ENST00000649408.2:c.2635G>C	ENSP00000497386.2:p.Glu879Gln
ENST00000649724.1:c.1750G>C	ENSP00000497932.1:p.Glu584Gln
ENST00000649749.1:c.1750G>C	ENSP00000497210.1:p.Glu584Gln
ENST00000679375.1:c.*867G>C	ENSP00000505887.1:n.*867G>C
ENST00000679465.1:n.3088G>C
ENST00000679805.1:n.2671G>C
ENST00000679899.1:c.1693G>C	ENSP00000505996.1:p.Glu565Gln
ENST00000680270.1:c.1750G>C	ENSP00000505532.1:p.Glu584Gln
ENST00000680305.1:c.2635G>C	ENSP00000506312.1:p.Glu879Gln
ENST00000681056.1:c.1750G>C	ENSP00000506234.1:p.Glu584Gln
ENST00000681235.1:c.*2157G>C	ENSP00000506606.1:n.*2157G>C
ENST00000681429.1:n.1895G>C
ENST00000681683.1:c.1750G>C	ENSP00000506666.1:p.Glu584Gln
ENST00000681786.1:n.3088G>C
ENST00000681901.1:c.*2235G>C	ENSP00000504883.1:n.*2235G>C
ENST00000368471.7:c.1750G>C	ENSP00000357456.3:p.Glu584Gln
ENST00000368474.8:c.2635G>C	ENSP00000357459.4:p.Glu879Gln
ENST00000529168.1:c.2542G>C	ENSP00000431794.1:p.Glu848Gln
NM_001025107.2:c.1750G>C	NP_001020278.1:p.Glu584Gln
NM_001111.4:c.2635G>C	NP_001102.2:p.Glu879Gln
NM_001193495.1:c.1750G>C	NP_001180424.1:p.Glu584Gln
NM_015840.3:c.2557G>C	NP_056655.2:p.Glu853Gln
NM_015841.3:c.2500G>C	NP_056656.2:p.Glu834Gln
XM_006711109.1:c.2665G>C	XP_006711172.1:p.Glu889Gln
XM_006711111.2:c.1750G>C	XP_006711174.1:p.Glu584Gln
XM_006711112.1:c.1750G>C	XP_006711175.1:p.Glu584Gln
XM_006711113.1:c.1750G>C	XP_006711176.1:p.Glu584Gln
XM_011509060.1:c.2764G>C	XP_011507362.1:p.Glu922Gln
XM_011509061.1:c.2686G>C	XP_011507363.1:p.Glu896Gln
XM_011509062.1:c.2653G>C	XP_011507364.1:p.Glu885Gln
NM_001025107.3:c.1750G>C	NP_001020278.1:p.Glu584Gln
NM_001111.5:c.2635G>C MANE Select	NP_001102.3:p.Glu879Gln
NM_001193495.2:c.1750G>C	NP_001180424.1:p.Glu584Gln
NM_001365045.1:c.2662G>C	NP_001351974.1:p.Glu888Gln
NM_001365046.1:c.1750G>C	NP_001351975.1:p.Glu584Gln
NM_001365047.1:c.1750G>C	NP_001351976.1:p.Glu584Gln
NM_001365048.1:c.1750G>C	NP_001351977.1:p.Glu584Gln
NM_001365049.1:c.1672G>C	NP_001351978.1:p.Glu558Gln
NM_015840.4:c.2557G>C	NP_056655.3:p.Glu853Gln
NM_015841.4:c.2500G>C	NP_056656.3:p.Glu834Gln
XM_006711113.2:c.1750G>C	XP_006711176.1:p.Glu584Gln
XM_011509061.2:c.1672G>C	XP_011507363.2:p.Glu558Gln
XM_024449674.1:c.2764G>C	XP_024305442.1:p.Glu922Gln