Canonical Allele Identifier: CA517471484

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907745A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652255A>C , CM000685.2:g.77652255A>C	GRCh38
NC_000023.10:g.76907745A>C , CM000685.1:g.76907745A>C	GRCh37
NC_000023.9:g.76794401A>C	NCBI36
NG_008838.2:g.138967T>G
NG_008838.3:g.139015T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4416T>G MANE Select	ENSP00000362441.4:p.Ser1472=
ENST00000373344.9:c.4416T>G	ENSP00000362441.4:p.Ser1472=
ENST00000395603.7:c.4302T>G	ENSP00000378967.3:p.Ser1434=
ENST00000480283.5:c.*4044T>G	ENSP00000480196.1:n.*4044T>G
ENST00000623242.3:c.22T>G
NM_000489.4:c.4416T>G	NP_000480.3:p.Ser1472=
NM_138270.3:c.4302T>G	NP_612114.2:p.Ser1434=
XM_005262153.3:c.4413T>G	XP_005262210.2:p.Ser1471=
XM_005262154.3:c.4329T>G	XP_005262211.2:p.Ser1443=
XM_005262155.3:c.4299T>G	XP_005262212.2:p.Ser1433=
XM_005262156.3:c.4251T>G	XP_005262213.2:p.Ser1417=
XM_005262157.3:c.4212T>G	XP_005262214.2:p.Ser1404=
XM_006724666.2:c.4299T>G	XP_006724729.1:p.Ser1433=
XM_006724667.2:c.4137T>G	XP_006724730.1:p.Ser1379=
XM_006724668.2:c.4416T>G	XP_006724731.1:p.Ser1472=
XR_938400.1:n.4684T>G
NM_000489.5:c.4416T>G	NP_000480.3:p.Ser1472=
XM_005262153.5:c.4413T>G	XP_005262210.2:p.Ser1471=
XM_005262154.5:c.4329T>G	XP_005262211.2:p.Ser1443=
XM_005262155.4:c.4299T>G	XP_005262212.2:p.Ser1433=
XM_005262156.4:c.4251T>G	XP_005262213.2:p.Ser1417=
XM_005262157.5:c.4212T>G	XP_005262214.2:p.Ser1404=
XM_006724666.4:c.4299T>G	XP_006724729.1:p.Ser1433=
XM_006724667.3:c.4137T>G	XP_006724730.1:p.Ser1379=
XM_006724668.3:c.4416T>G	XP_006724731.1:p.Ser1472=
XM_017029601.2:c.4326T>G	XP_016885090.1:p.Ser1442=
XM_017029602.1:c.4296T>G	XP_016885091.1:p.Ser1432=
XM_017029603.1:c.4248T>G	XP_016885092.1:p.Ser1416=
XM_017029604.2:c.4215T>G	XP_016885093.1:p.Ser1405=
XM_017029605.1:c.4212T>G	XP_016885094.1:p.Ser1404=
XM_017029606.2:c.4185T>G	XP_016885095.1:p.Ser1395=
XM_017029607.2:c.4182T>G	XP_016885096.1:p.Ser1394=
XM_017029608.2:c.4134T>G	XP_016885097.1:p.Ser1378=
XM_017029609.1:c.4098T>G	XP_016885098.1:p.Ser1366=
XM_017029610.1:c.4095T>G	XP_016885099.1:p.Ser1365=
XM_017029611.1:c.4050T>G	XP_016885100.1:p.Ser1350=
XR_001755700.2:n.4641T>G
NM_138270.4:c.4302T>G	NP_612114.2:p.Ser1434=
NM_000489.6:c.4416T>G MANE Select	NP_000480.3:p.Ser1472=
NM_138270.5:c.4302T>G	NP_612114.2:p.Ser1434=