Canonical Allele Identifier: CA342604191

Gene: ADAR

Linked Data

• dbSNP Id: rs1697937168
• gnomAD v4: 1-154602310-G-A
• MyVariant Identifiers: chr1:g.154574786G>A (hg19) ; chr1:g.154602310G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154602310G>A , CM000663.2:g.154602310G>A	GRCh38
NC_000001.10:g.154574786G>A , CM000663.1:g.154574786G>A	GRCh37
NC_000001.9:g.152841410G>A	NCBI36
NG_011844.1:g.30652C>T
NG_011844.2:g.34251C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649042.2:c.288-62C>T	ENSP00000497790.2:n.288-62C>T
ENST00000649724.2:c.362C>T	ENSP00000497932.2:p.Pro121Leu
ENST00000680270.2:c.362C>T	ENSP00000505532.2:p.Pro121Leu
ENST00000681056.2:c.46-62C>T	ENSP00000506234.2:n.46-62C>T
ENST00000368471.8:c.-554C>T	ENSP00000357456.3:n.-554C>T
ENST00000368474.9:c.332C>T MANE Select	ENSP00000357459.4:p.Pro111Leu
ENST00000471068.2:n.391-62C>T
ENST00000526905.2:n.258-62C>T
ENST00000529168.2:c.332C>T	ENSP00000431794.2:p.Pro111Leu
ENST00000647682.2:n.124-62C>T
ENST00000648231.2:c.-554C>T	ENSP00000497555.1:n.-554C>T
ENST00000648311.1:c.-554C>T	ENSP00000498137.1:n.-554C>T
ENST00000648714.2:c.332C>T	ENSP00000497434.2:p.Pro111Leu
ENST00000648871.1:c.-492-62C>T	ENSP00000497793.1:n.-492-62C>T
ENST00000649021.1:n.368C>T
ENST00000649022.2:c.-554C>T	ENSP00000496896.2:n.-554C>T
ENST00000649042.1:c.-492-62C>T	ENSP00000497790.1:n.-492-62C>T
ENST00000649408.2:c.332C>T	ENSP00000497386.2:p.Pro111Leu
ENST00000649724.1:c.-554C>T	ENSP00000497932.1:n.-554C>T
ENST00000649749.1:c.-554C>T	ENSP00000497210.1:n.-554C>T
ENST00000679375.1:c.-492-62C>T	ENSP00000505887.1:n.-492-62C>T
ENST00000679465.1:n.530C>T
ENST00000679805.1:n.368C>T
ENST00000679899.1:c.-554C>T	ENSP00000505996.1:n.-554C>T
ENST00000680270.1:c.-407C>T	ENSP00000505532.1:n.-407C>T
ENST00000680305.1:c.332C>T	ENSP00000506312.1:p.Pro111Leu
ENST00000680472.1:n.371C>T
ENST00000681056.1:c.-492-62C>T	ENSP00000506234.1:n.-492-62C>T
ENST00000681235.1:c.258-62C>T	ENSP00000506606.1:n.258-62C>T
ENST00000681683.1:c.-492-62C>T	ENSP00000506666.1:n.-492-62C>T
ENST00000681786.1:n.530C>T
ENST00000681901.1:c.258-62C>T	ENSP00000504883.1:n.258-62C>T
ENST00000368471.7:c.-554C>T	ENSP00000357456.3:n.-554C>T
ENST00000368474.8:c.332C>T	ENSP00000357459.4:p.Pro111Leu
ENST00000463920.5:n.276-62C>T
ENST00000471068.1:n.363C>T
ENST00000494866.1:n.301-62C>T
ENST00000526905.1:n.379C>T
ENST00000529168.1:c.317C>T	ENSP00000431794.1:p.Pro106Leu
NM_001025107.2:c.-554C>T	NP_001020278.1:n.-554C>T
NM_001111.4:c.332C>T	NP_001102.2:p.Pro111Leu
NM_001193495.1:c.-554C>T	NP_001180424.1:n.-554C>T
NM_015840.3:c.332C>T	NP_056655.2:p.Pro111Leu
NM_015841.3:c.332C>T	NP_056656.2:p.Pro111Leu
XM_006711109.1:c.362C>T	XP_006711172.1:p.Pro121Leu
XM_006711111.2:c.-492-62C>T	XP_006711174.1:n.-492-62C>T
XM_006711112.1:c.-492-62C>T	XP_006711175.1:n.-492-62C>T
XM_006711113.1:c.-492-62C>T	XP_006711176.1:n.-492-62C>T
XM_011509060.1:c.461C>T	XP_011507362.1:p.Pro154Leu
XM_011509061.1:c.461C>T	XP_011507363.1:p.Pro154Leu
XM_011509062.1:c.350C>T	XP_011507364.1:p.Pro117Leu
NM_001025107.3:c.-554C>T	NP_001020278.1:n.-554C>T
NM_001111.5:c.332C>T MANE Select	NP_001102.3:p.Pro111Leu
NM_001193495.2:c.-554C>T	NP_001180424.1:n.-554C>T
NM_001365045.1:c.359C>T	NP_001351974.1:p.Pro120Leu
NM_001365046.1:c.-492-62C>T	NP_001351975.1:n.-492-62C>T
NM_001365047.1:c.-492-62C>T	NP_001351976.1:n.-492-62C>T
NM_001365048.1:c.-554C>T	NP_001351977.1:n.-554C>T
NM_001365049.1:c.-492-62C>T	NP_001351978.1:n.-492-62C>T
NM_015840.4:c.332C>T	NP_056655.3:p.Pro111Leu
NM_015841.4:c.332C>T	NP_056656.3:p.Pro111Leu
XM_006711113.2:c.-492-62C>T	XP_006711176.1:n.-492-62C>T
XM_011509061.2:c.-554C>T	XP_011507363.2:n.-554C>T
XM_024449674.1:c.461C>T	XP_024305442.1:p.Pro154Leu