Canonical Allele Identifier: CA517471459

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907709A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652219A>C , CM000685.2:g.77652219A>C	GRCh38
NC_000023.10:g.76907709A>C , CM000685.1:g.76907709A>C	GRCh37
NC_000023.9:g.76794365A>C	NCBI36
NG_008838.2:g.139003T>G
NG_008838.3:g.139051T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4452T>G MANE Select	ENSP00000362441.4:p.Leu1484=
ENST00000373344.9:c.4452T>G	ENSP00000362441.4:p.Leu1484=
ENST00000395603.7:c.4338T>G	ENSP00000378967.3:p.Leu1446=
ENST00000480283.5:c.*4080T>G	ENSP00000480196.1:n.*4080T>G
ENST00000623242.3:c.58T>G
NM_000489.4:c.4452T>G	NP_000480.3:p.Leu1484=
NM_138270.3:c.4338T>G	NP_612114.2:p.Leu1446=
XM_005262153.3:c.4449T>G	XP_005262210.2:p.Leu1483=
XM_005262154.3:c.4365T>G	XP_005262211.2:p.Leu1455=
XM_005262155.3:c.4335T>G	XP_005262212.2:p.Leu1445=
XM_005262156.3:c.4287T>G	XP_005262213.2:p.Leu1429=
XM_005262157.3:c.4248T>G	XP_005262214.2:p.Leu1416=
XM_006724666.2:c.4335T>G	XP_006724729.1:p.Leu1445=
XM_006724667.2:c.4173T>G	XP_006724730.1:p.Leu1391=
XM_006724668.2:c.4452T>G	XP_006724731.1:p.Leu1484=
XR_938400.1:n.4720T>G
NM_000489.5:c.4452T>G	NP_000480.3:p.Leu1484=
XM_005262153.5:c.4449T>G	XP_005262210.2:p.Leu1483=
XM_005262154.5:c.4365T>G	XP_005262211.2:p.Leu1455=
XM_005262155.4:c.4335T>G	XP_005262212.2:p.Leu1445=
XM_005262156.4:c.4287T>G	XP_005262213.2:p.Leu1429=
XM_005262157.5:c.4248T>G	XP_005262214.2:p.Leu1416=
XM_006724666.4:c.4335T>G	XP_006724729.1:p.Leu1445=
XM_006724667.3:c.4173T>G	XP_006724730.1:p.Leu1391=
XM_006724668.3:c.4452T>G	XP_006724731.1:p.Leu1484=
XM_017029601.2:c.4362T>G	XP_016885090.1:p.Leu1454=
XM_017029602.1:c.4332T>G	XP_016885091.1:p.Leu1444=
XM_017029603.1:c.4284T>G	XP_016885092.1:p.Leu1428=
XM_017029604.2:c.4251T>G	XP_016885093.1:p.Leu1417=
XM_017029605.1:c.4248T>G	XP_016885094.1:p.Leu1416=
XM_017029606.2:c.4221T>G	XP_016885095.1:p.Leu1407=
XM_017029607.2:c.4218T>G	XP_016885096.1:p.Leu1406=
XM_017029608.2:c.4170T>G	XP_016885097.1:p.Leu1390=
XM_017029609.1:c.4134T>G	XP_016885098.1:p.Leu1378=
XM_017029610.1:c.4131T>G	XP_016885099.1:p.Leu1377=
XM_017029611.1:c.4086T>G	XP_016885100.1:p.Leu1362=
XR_001755700.2:n.4677T>G
NM_138270.4:c.4338T>G	NP_612114.2:p.Leu1446=
NM_000489.6:c.4452T>G MANE Select	NP_000480.3:p.Leu1484=
NM_138270.5:c.4338T>G	NP_612114.2:p.Leu1446=