Canonical Allele Identifier: CA413708635

Gene: ATRX

Linked Data

• dbSNP Id: rs2148439050
• MyVariant Identifiers: chrX:g.76907777C>G (hg19) ; chrX:g.77652287C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652287C>G , CM000685.2:g.77652287C>G	GRCh38
NC_000023.10:g.76907777C>G , CM000685.1:g.76907777C>G	GRCh37
NC_000023.9:g.76794433C>G	NCBI36
NG_008838.2:g.138935G>C
NG_008838.3:g.138983G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4384G>C MANE Select	ENSP00000362441.4:p.Glu1462Gln
ENST00000373344.9:c.4384G>C	ENSP00000362441.4:p.Glu1462Gln
ENST00000395603.7:c.4270G>C	ENSP00000378967.3:p.Glu1424Gln
ENST00000480283.5:c.*4012G>C	ENSP00000480196.1:n.*4012G>C
NM_000489.4:c.4384G>C	NP_000480.3:p.Glu1462Gln
NM_138270.3:c.4270G>C	NP_612114.2:p.Glu1424Gln
XM_005262153.3:c.4381G>C	XP_005262210.2:p.Glu1461Gln
XM_005262154.3:c.4297G>C	XP_005262211.2:p.Glu1433Gln
XM_005262155.3:c.4267G>C	XP_005262212.2:p.Glu1423Gln
XM_005262156.3:c.4219G>C	XP_005262213.2:p.Glu1407Gln
XM_005262157.3:c.4180G>C	XP_005262214.2:p.Glu1394Gln
XM_006724666.2:c.4267G>C	XP_006724729.1:p.Glu1423Gln
XM_006724667.2:c.4105G>C	XP_006724730.1:p.Glu1369Gln
XM_006724668.2:c.4384G>C	XP_006724731.1:p.Glu1462Gln
XR_938400.1:n.4652G>C
NM_000489.5:c.4384G>C	NP_000480.3:p.Glu1462Gln
XM_005262153.5:c.4381G>C	XP_005262210.2:p.Glu1461Gln
XM_005262154.5:c.4297G>C	XP_005262211.2:p.Glu1433Gln
XM_005262155.4:c.4267G>C	XP_005262212.2:p.Glu1423Gln
XM_005262156.4:c.4219G>C	XP_005262213.2:p.Glu1407Gln
XM_005262157.5:c.4180G>C	XP_005262214.2:p.Glu1394Gln
XM_006724666.4:c.4267G>C	XP_006724729.1:p.Glu1423Gln
XM_006724667.3:c.4105G>C	XP_006724730.1:p.Glu1369Gln
XM_006724668.3:c.4384G>C	XP_006724731.1:p.Glu1462Gln
XM_017029601.2:c.4294G>C	XP_016885090.1:p.Glu1432Gln
XM_017029602.1:c.4264G>C	XP_016885091.1:p.Glu1422Gln
XM_017029603.1:c.4216G>C	XP_016885092.1:p.Glu1406Gln
XM_017029604.2:c.4183G>C	XP_016885093.1:p.Glu1395Gln
XM_017029605.1:c.4180G>C	XP_016885094.1:p.Glu1394Gln
XM_017029606.2:c.4153G>C	XP_016885095.1:p.Glu1385Gln
XM_017029607.2:c.4150G>C	XP_016885096.1:p.Glu1384Gln
XM_017029608.2:c.4102G>C	XP_016885097.1:p.Glu1368Gln
XM_017029609.1:c.4066G>C	XP_016885098.1:p.Glu1356Gln
XM_017029610.1:c.4063G>C	XP_016885099.1:p.Glu1355Gln
XM_017029611.1:c.4018G>C	XP_016885100.1:p.Glu1340Gln
XR_001755700.2:n.4609G>C
NM_138270.4:c.4270G>C	NP_612114.2:p.Glu1424Gln
NM_000489.6:c.4384G>C MANE Select	NP_000480.3:p.Glu1462Gln
NM_138270.5:c.4270G>C	NP_612114.2:p.Glu1424Gln