Canonical Allele Identifier: CA413708343

Gene: ATRX

Linked Data

• dbSNP Id: rs2148437925
• MyVariant Identifiers: chrX:g.76907732T>C (hg19) ; chrX:g.77652242T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652242T>C , CM000685.2:g.77652242T>C	GRCh38
NC_000023.10:g.76907732T>C , CM000685.1:g.76907732T>C	GRCh37
NC_000023.9:g.76794388T>C	NCBI36
NG_008838.2:g.138980A>G
NG_008838.3:g.139028A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4429A>G MANE Select	ENSP00000362441.4:p.Arg1477Gly
ENST00000373344.9:c.4429A>G	ENSP00000362441.4:p.Arg1477Gly
ENST00000395603.7:c.4315A>G	ENSP00000378967.3:p.Arg1439Gly
ENST00000480283.5:c.*4057A>G	ENSP00000480196.1:n.*4057A>G
ENST00000623242.3:c.35A>G
NM_000489.4:c.4429A>G	NP_000480.3:p.Arg1477Gly
NM_138270.3:c.4315A>G	NP_612114.2:p.Arg1439Gly
XM_005262153.3:c.4426A>G	XP_005262210.2:p.Arg1476Gly
XM_005262154.3:c.4342A>G	XP_005262211.2:p.Arg1448Gly
XM_005262155.3:c.4312A>G	XP_005262212.2:p.Arg1438Gly
XM_005262156.3:c.4264A>G	XP_005262213.2:p.Arg1422Gly
XM_005262157.3:c.4225A>G	XP_005262214.2:p.Arg1409Gly
XM_006724666.2:c.4312A>G	XP_006724729.1:p.Arg1438Gly
XM_006724667.2:c.4150A>G	XP_006724730.1:p.Arg1384Gly
XM_006724668.2:c.4429A>G	XP_006724731.1:p.Arg1477Gly
XR_938400.1:n.4697A>G
NM_000489.5:c.4429A>G	NP_000480.3:p.Arg1477Gly
XM_005262153.5:c.4426A>G	XP_005262210.2:p.Arg1476Gly
XM_005262154.5:c.4342A>G	XP_005262211.2:p.Arg1448Gly
XM_005262155.4:c.4312A>G	XP_005262212.2:p.Arg1438Gly
XM_005262156.4:c.4264A>G	XP_005262213.2:p.Arg1422Gly
XM_005262157.5:c.4225A>G	XP_005262214.2:p.Arg1409Gly
XM_006724666.4:c.4312A>G	XP_006724729.1:p.Arg1438Gly
XM_006724667.3:c.4150A>G	XP_006724730.1:p.Arg1384Gly
XM_006724668.3:c.4429A>G	XP_006724731.1:p.Arg1477Gly
XM_017029601.2:c.4339A>G	XP_016885090.1:p.Arg1447Gly
XM_017029602.1:c.4309A>G	XP_016885091.1:p.Arg1437Gly
XM_017029603.1:c.4261A>G	XP_016885092.1:p.Arg1421Gly
XM_017029604.2:c.4228A>G	XP_016885093.1:p.Arg1410Gly
XM_017029605.1:c.4225A>G	XP_016885094.1:p.Arg1409Gly
XM_017029606.2:c.4198A>G	XP_016885095.1:p.Arg1400Gly
XM_017029607.2:c.4195A>G	XP_016885096.1:p.Arg1399Gly
XM_017029608.2:c.4147A>G	XP_016885097.1:p.Arg1383Gly
XM_017029609.1:c.4111A>G	XP_016885098.1:p.Arg1371Gly
XM_017029610.1:c.4108A>G	XP_016885099.1:p.Arg1370Gly
XM_017029611.1:c.4063A>G	XP_016885100.1:p.Arg1355Gly
XR_001755700.2:n.4654A>G
NM_138270.4:c.4315A>G	NP_612114.2:p.Arg1439Gly
NM_000489.6:c.4429A>G MANE Select	NP_000480.3:p.Arg1477Gly
NM_138270.5:c.4315A>G	NP_612114.2:p.Arg1439Gly