Canonical Allele Identifier: CA413708409

Gene: ATRX

Linked Data

• dbSNP Id: rs2148438318
• MyVariant Identifiers: chrX:g.76907746G>C (hg19) ; chrX:g.77652256G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652256G>C , CM000685.2:g.77652256G>C	GRCh38
NC_000023.10:g.76907746G>C , CM000685.1:g.76907746G>C	GRCh37
NC_000023.9:g.76794402G>C	NCBI36
NG_008838.2:g.138966C>G
NG_008838.3:g.139014C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4415C>G MANE Select	ENSP00000362441.4:p.Ser1472Cys
ENST00000373344.9:c.4415C>G	ENSP00000362441.4:p.Ser1472Cys
ENST00000395603.7:c.4301C>G	ENSP00000378967.3:p.Ser1434Cys
ENST00000480283.5:c.*4043C>G	ENSP00000480196.1:n.*4043C>G
ENST00000623242.3:c.21C>G
NM_000489.4:c.4415C>G	NP_000480.3:p.Ser1472Cys
NM_138270.3:c.4301C>G	NP_612114.2:p.Ser1434Cys
XM_005262153.3:c.4412C>G	XP_005262210.2:p.Ser1471Cys
XM_005262154.3:c.4328C>G	XP_005262211.2:p.Ser1443Cys
XM_005262155.3:c.4298C>G	XP_005262212.2:p.Ser1433Cys
XM_005262156.3:c.4250C>G	XP_005262213.2:p.Ser1417Cys
XM_005262157.3:c.4211C>G	XP_005262214.2:p.Ser1404Cys
XM_006724666.2:c.4298C>G	XP_006724729.1:p.Ser1433Cys
XM_006724667.2:c.4136C>G	XP_006724730.1:p.Ser1379Cys
XM_006724668.2:c.4415C>G	XP_006724731.1:p.Ser1472Cys
XR_938400.1:n.4683C>G
NM_000489.5:c.4415C>G	NP_000480.3:p.Ser1472Cys
XM_005262153.5:c.4412C>G	XP_005262210.2:p.Ser1471Cys
XM_005262154.5:c.4328C>G	XP_005262211.2:p.Ser1443Cys
XM_005262155.4:c.4298C>G	XP_005262212.2:p.Ser1433Cys
XM_005262156.4:c.4250C>G	XP_005262213.2:p.Ser1417Cys
XM_005262157.5:c.4211C>G	XP_005262214.2:p.Ser1404Cys
XM_006724666.4:c.4298C>G	XP_006724729.1:p.Ser1433Cys
XM_006724667.3:c.4136C>G	XP_006724730.1:p.Ser1379Cys
XM_006724668.3:c.4415C>G	XP_006724731.1:p.Ser1472Cys
XM_017029601.2:c.4325C>G	XP_016885090.1:p.Ser1442Cys
XM_017029602.1:c.4295C>G	XP_016885091.1:p.Ser1432Cys
XM_017029603.1:c.4247C>G	XP_016885092.1:p.Ser1416Cys
XM_017029604.2:c.4214C>G	XP_016885093.1:p.Ser1405Cys
XM_017029605.1:c.4211C>G	XP_016885094.1:p.Ser1404Cys
XM_017029606.2:c.4184C>G	XP_016885095.1:p.Ser1395Cys
XM_017029607.2:c.4181C>G	XP_016885096.1:p.Ser1394Cys
XM_017029608.2:c.4133C>G	XP_016885097.1:p.Ser1378Cys
XM_017029609.1:c.4097C>G	XP_016885098.1:p.Ser1366Cys
XM_017029610.1:c.4094C>G	XP_016885099.1:p.Ser1365Cys
XM_017029611.1:c.4049C>G	XP_016885100.1:p.Ser1350Cys
XR_001755700.2:n.4640C>G
NM_138270.4:c.4301C>G	NP_612114.2:p.Ser1434Cys
NM_000489.6:c.4415C>G MANE Select	NP_000480.3:p.Ser1472Cys
NM_138270.5:c.4301C>G	NP_612114.2:p.Ser1434Cys