Canonical Allele Identifier: CA1131721

Gene: ADAR

Linked Data

• dbSNP Id: rs753665712
• ExAC: 1:154574819 C / G
• gnomAD v2: 1-154574819-C-G
• gnomAD v3: 1-154602343-C-G
• gnomAD v4: 1-154602343-C-G
• MyVariant Identifiers: chr1:g.154574819C>G (hg19) ; chr1:g.154602343C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154602343C>G , CM000663.2:g.154602343C>G	GRCh38
NC_000001.10:g.154574819C>G , CM000663.1:g.154574819C>G	GRCh37
NC_000001.9:g.152841443C>G	NCBI36
NG_011844.1:g.30619G>C
NG_011844.2:g.34218G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649042.2:c.287+42G>C	ENSP00000497790.2:n.287+42G>C
ENST00000649724.2:c.329G>C	ENSP00000497932.2:p.Arg110Thr
ENST00000680270.2:c.329G>C	ENSP00000505532.2:p.Arg110Thr
ENST00000681056.2:c.46-95G>C	ENSP00000506234.2:n.46-95G>C
ENST00000368471.8:c.-587G>C	ENSP00000357456.3:n.-587G>C
ENST00000368474.9:c.299G>C MANE Select	ENSP00000357459.4:p.Arg100Thr
ENST00000471068.2:n.390+42G>C
ENST00000526905.2:n.257+42G>C
ENST00000529168.2:c.299G>C	ENSP00000431794.2:p.Arg100Thr
ENST00000647682.2:n.124-95G>C
ENST00000648231.2:c.-587G>C	ENSP00000497555.1:n.-587G>C
ENST00000648311.1:c.-587G>C	ENSP00000498137.1:n.-587G>C
ENST00000648714.2:c.299G>C	ENSP00000497434.2:p.Arg100Thr
ENST00000648871.1:c.-492-95G>C	ENSP00000497793.1:n.-492-95G>C
ENST00000649021.1:n.335G>C
ENST00000649022.2:c.-587G>C	ENSP00000496896.2:n.-587G>C
ENST00000649042.1:c.-493+42G>C	ENSP00000497790.1:n.-493+42G>C
ENST00000649408.2:c.299G>C	ENSP00000497386.2:p.Arg100Thr
ENST00000649724.1:c.-587G>C	ENSP00000497932.1:n.-587G>C
ENST00000649749.1:c.-587G>C	ENSP00000497210.1:n.-587G>C
ENST00000679375.1:c.-492-95G>C	ENSP00000505887.1:n.-492-95G>C
ENST00000679465.1:n.497G>C
ENST00000679805.1:n.335G>C
ENST00000679899.1:c.-587G>C	ENSP00000505996.1:n.-587G>C
ENST00000680270.1:c.-440G>C	ENSP00000505532.1:n.-440G>C
ENST00000680305.1:c.299G>C	ENSP00000506312.1:p.Arg100Thr
ENST00000680472.1:n.338G>C
ENST00000681056.1:c.-492-95G>C	ENSP00000506234.1:n.-492-95G>C
ENST00000681235.1:c.257+42G>C	ENSP00000506606.1:n.257+42G>C
ENST00000681683.1:c.-493+42G>C	ENSP00000506666.1:n.-493+42G>C
ENST00000681786.1:n.497G>C
ENST00000681901.1:c.257+42G>C	ENSP00000504883.1:n.257+42G>C
ENST00000368471.7:c.-587G>C	ENSP00000357456.3:n.-587G>C
ENST00000368474.8:c.299G>C	ENSP00000357459.4:p.Arg100Thr
ENST00000463920.5:n.275+42G>C
ENST00000471068.1:n.330G>C
ENST00000494866.1:n.300+42G>C
ENST00000526905.1:n.346G>C
ENST00000529168.1:c.284G>C	ENSP00000431794.1:p.Arg95Thr
NM_001025107.2:c.-587G>C	NP_001020278.1:n.-587G>C
NM_001111.4:c.299G>C	NP_001102.2:p.Gly100Ala
NM_001193495.1:c.-587G>C	NP_001180424.1:n.-587G>C
NM_015840.3:c.299G>C	NP_056655.2:p.Gly100Ala
NM_015841.3:c.299G>C	NP_056656.2:p.Gly100Ala
XM_006711109.1:c.329G>C	XP_006711172.1:p.Arg110Thr
XM_006711111.2:c.-493+42G>C	XP_006711174.1:n.-493+42G>C
XM_006711112.1:c.-493+42G>C	XP_006711175.1:n.-493+42G>C
XM_006711113.1:c.-493+42G>C	XP_006711176.1:n.-493+42G>C
XM_011509060.1:c.428G>C	XP_011507362.1:p.Arg143Thr
XM_011509061.1:c.428G>C	XP_011507363.1:p.Arg143Thr
XM_011509062.1:c.317G>C	XP_011507364.1:p.Arg106Thr
NM_001025107.3:c.-587G>C	NP_001020278.1:n.-587G>C
NM_001111.5:c.299G>C MANE Select	NP_001102.3:p.Arg100Thr
NM_001193495.2:c.-587G>C	NP_001180424.1:n.-587G>C
NM_001365045.1:c.326G>C	NP_001351974.1:p.Arg109Thr
NM_001365046.1:c.-493+42G>C	NP_001351975.1:n.-493+42G>C
NM_001365047.1:c.-493+42G>C	NP_001351976.1:n.-493+42G>C
NM_001365048.1:c.-587G>C	NP_001351977.1:n.-587G>C
NM_001365049.1:c.-493+42G>C	NP_001351978.1:n.-493+42G>C
NM_015840.4:c.299G>C	NP_056655.3:p.Arg100Thr
NM_015841.4:c.299G>C	NP_056656.3:p.Arg100Thr
XM_006711113.2:c.-493+42G>C	XP_006711176.1:n.-493+42G>C
XM_011509061.2:c.-587G>C	XP_011507363.2:n.-587G>C
XM_024449674.1:c.428G>C	XP_024305442.1:p.Arg143Thr