Canonical Allele Identifier: CA413708415

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907747A>G (hg19) ; chrX:g.77652257A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652257A>G , CM000685.2:g.77652257A>G	GRCh38
NC_000023.10:g.76907747A>G , CM000685.1:g.76907747A>G	GRCh37
NC_000023.9:g.76794403A>G	NCBI36
NG_008838.2:g.138965T>C
NG_008838.3:g.139013T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4414T>C MANE Select	ENSP00000362441.4:p.Ser1472Pro
ENST00000373344.9:c.4414T>C	ENSP00000362441.4:p.Ser1472Pro
ENST00000395603.7:c.4300T>C	ENSP00000378967.3:p.Ser1434Pro
ENST00000480283.5:c.*4042T>C	ENSP00000480196.1:n.*4042T>C
ENST00000623242.3:c.20T>C
NM_000489.4:c.4414T>C	NP_000480.3:p.Ser1472Pro
NM_138270.3:c.4300T>C	NP_612114.2:p.Ser1434Pro
XM_005262153.3:c.4411T>C	XP_005262210.2:p.Ser1471Pro
XM_005262154.3:c.4327T>C	XP_005262211.2:p.Ser1443Pro
XM_005262155.3:c.4297T>C	XP_005262212.2:p.Ser1433Pro
XM_005262156.3:c.4249T>C	XP_005262213.2:p.Ser1417Pro
XM_005262157.3:c.4210T>C	XP_005262214.2:p.Ser1404Pro
XM_006724666.2:c.4297T>C	XP_006724729.1:p.Ser1433Pro
XM_006724667.2:c.4135T>C	XP_006724730.1:p.Ser1379Pro
XM_006724668.2:c.4414T>C	XP_006724731.1:p.Ser1472Pro
XR_938400.1:n.4682T>C
NM_000489.5:c.4414T>C	NP_000480.3:p.Ser1472Pro
XM_005262153.5:c.4411T>C	XP_005262210.2:p.Ser1471Pro
XM_005262154.5:c.4327T>C	XP_005262211.2:p.Ser1443Pro
XM_005262155.4:c.4297T>C	XP_005262212.2:p.Ser1433Pro
XM_005262156.4:c.4249T>C	XP_005262213.2:p.Ser1417Pro
XM_005262157.5:c.4210T>C	XP_005262214.2:p.Ser1404Pro
XM_006724666.4:c.4297T>C	XP_006724729.1:p.Ser1433Pro
XM_006724667.3:c.4135T>C	XP_006724730.1:p.Ser1379Pro
XM_006724668.3:c.4414T>C	XP_006724731.1:p.Ser1472Pro
XM_017029601.2:c.4324T>C	XP_016885090.1:p.Ser1442Pro
XM_017029602.1:c.4294T>C	XP_016885091.1:p.Ser1432Pro
XM_017029603.1:c.4246T>C	XP_016885092.1:p.Ser1416Pro
XM_017029604.2:c.4213T>C	XP_016885093.1:p.Ser1405Pro
XM_017029605.1:c.4210T>C	XP_016885094.1:p.Ser1404Pro
XM_017029606.2:c.4183T>C	XP_016885095.1:p.Ser1395Pro
XM_017029607.2:c.4180T>C	XP_016885096.1:p.Ser1394Pro
XM_017029608.2:c.4132T>C	XP_016885097.1:p.Ser1378Pro
XM_017029609.1:c.4096T>C	XP_016885098.1:p.Ser1366Pro
XM_017029610.1:c.4093T>C	XP_016885099.1:p.Ser1365Pro
XM_017029611.1:c.4048T>C	XP_016885100.1:p.Ser1350Pro
XR_001755700.2:n.4639T>C
NM_138270.4:c.4300T>C	NP_612114.2:p.Ser1434Pro
NM_000489.6:c.4414T>C MANE Select	NP_000480.3:p.Ser1472Pro
NM_138270.5:c.4300T>C	NP_612114.2:p.Ser1434Pro