Canonical Allele Identifier: CA517471457

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1078806
• ClinVar RCV Id: RCV001393842
• dbSNP Id: rs2148437345
• MyVariant Identifiers: chrX:g.76907703A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652213A>G , CM000685.2:g.77652213A>G	GRCh38
NC_000023.10:g.76907703A>G , CM000685.1:g.76907703A>G	GRCh37
NC_000023.9:g.76794359A>G	NCBI36
NG_008838.2:g.139009T>C
NG_008838.3:g.139057T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4458T>C MANE Select	ENSP00000362441.4:p.Asp1486=
ENST00000373344.9:c.4458T>C	ENSP00000362441.4:p.Asp1486=
ENST00000395603.7:c.4344T>C	ENSP00000378967.3:p.Asp1448=
ENST00000480283.5:c.*4086T>C	ENSP00000480196.1:n.*4086T>C
ENST00000623242.3:c.64T>C
NM_000489.4:c.4458T>C	NP_000480.3:p.Asp1486=
NM_138270.3:c.4344T>C	NP_612114.2:p.Asp1448=
XM_005262153.3:c.4455T>C	XP_005262210.2:p.Asp1485=
XM_005262154.3:c.4371T>C	XP_005262211.2:p.Asp1457=
XM_005262155.3:c.4341T>C	XP_005262212.2:p.Asp1447=
XM_005262156.3:c.4293T>C	XP_005262213.2:p.Asp1431=
XM_005262157.3:c.4254T>C	XP_005262214.2:p.Asp1418=
XM_006724666.2:c.4341T>C	XP_006724729.1:p.Asp1447=
XM_006724667.2:c.4179T>C	XP_006724730.1:p.Asp1393=
XM_006724668.2:c.4458T>C	XP_006724731.1:p.Asp1486=
XR_938400.1:n.4726T>C
NM_000489.5:c.4458T>C	NP_000480.3:p.Asp1486=
XM_005262153.5:c.4455T>C	XP_005262210.2:p.Asp1485=
XM_005262154.5:c.4371T>C	XP_005262211.2:p.Asp1457=
XM_005262155.4:c.4341T>C	XP_005262212.2:p.Asp1447=
XM_005262156.4:c.4293T>C	XP_005262213.2:p.Asp1431=
XM_005262157.5:c.4254T>C	XP_005262214.2:p.Asp1418=
XM_006724666.4:c.4341T>C	XP_006724729.1:p.Asp1447=
XM_006724667.3:c.4179T>C	XP_006724730.1:p.Asp1393=
XM_006724668.3:c.4458T>C	XP_006724731.1:p.Asp1486=
XM_017029601.2:c.4368T>C	XP_016885090.1:p.Asp1456=
XM_017029602.1:c.4338T>C	XP_016885091.1:p.Asp1446=
XM_017029603.1:c.4290T>C	XP_016885092.1:p.Asp1430=
XM_017029604.2:c.4257T>C	XP_016885093.1:p.Asp1419=
XM_017029605.1:c.4254T>C	XP_016885094.1:p.Asp1418=
XM_017029606.2:c.4227T>C	XP_016885095.1:p.Asp1409=
XM_017029607.2:c.4224T>C	XP_016885096.1:p.Asp1408=
XM_017029608.2:c.4176T>C	XP_016885097.1:p.Asp1392=
XM_017029609.1:c.4140T>C	XP_016885098.1:p.Asp1380=
XM_017029610.1:c.4137T>C	XP_016885099.1:p.Asp1379=
XM_017029611.1:c.4092T>C	XP_016885100.1:p.Asp1364=
XR_001755700.2:n.4683T>C
NM_138270.4:c.4344T>C	NP_612114.2:p.Asp1448=
NM_000489.6:c.4458T>C MANE Select	NP_000480.3:p.Asp1486=
NM_138270.5:c.4344T>C	NP_612114.2:p.Asp1448=