Canonical Allele Identifier: CA331567535

Gene: ATRX

Linked Data

• dbSNP Id: rs936089680
• MyVariant Identifiers: chrX:g.76907757A>G (hg19) ; chrX:g.77652267A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652267A>G , CM000685.2:g.77652267A>G	GRCh38
NC_000023.10:g.76907757A>G , CM000685.1:g.76907757A>G	GRCh37
NC_000023.9:g.76794413A>G	NCBI36
NG_008838.2:g.138955T>C
NG_008838.3:g.139003T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4404T>C MANE Select	ENSP00000362441.4:p.Asp1468=
ENST00000373344.9:c.4404T>C	ENSP00000362441.4:p.Asp1468=
ENST00000395603.7:c.4290T>C	ENSP00000378967.3:p.Asp1430=
ENST00000480283.5:c.*4032T>C	ENSP00000480196.1:n.*4032T>C
ENST00000623242.3:c.10T>C
NM_000489.4:c.4404T>C	NP_000480.3:p.Asp1468=
NM_138270.3:c.4290T>C	NP_612114.2:p.Asp1430=
XM_005262153.3:c.4401T>C	XP_005262210.2:p.Asp1467=
XM_005262154.3:c.4317T>C	XP_005262211.2:p.Asp1439=
XM_005262155.3:c.4287T>C	XP_005262212.2:p.Asp1429=
XM_005262156.3:c.4239T>C	XP_005262213.2:p.Asp1413=
XM_005262157.3:c.4200T>C	XP_005262214.2:p.Asp1400=
XM_006724666.2:c.4287T>C	XP_006724729.1:p.Asp1429=
XM_006724667.2:c.4125T>C	XP_006724730.1:p.Asp1375=
XM_006724668.2:c.4404T>C	XP_006724731.1:p.Asp1468=
XR_938400.1:n.4672T>C
NM_000489.5:c.4404T>C	NP_000480.3:p.Asp1468=
XM_005262153.5:c.4401T>C	XP_005262210.2:p.Asp1467=
XM_005262154.5:c.4317T>C	XP_005262211.2:p.Asp1439=
XM_005262155.4:c.4287T>C	XP_005262212.2:p.Asp1429=
XM_005262156.4:c.4239T>C	XP_005262213.2:p.Asp1413=
XM_005262157.5:c.4200T>C	XP_005262214.2:p.Asp1400=
XM_006724666.4:c.4287T>C	XP_006724729.1:p.Asp1429=
XM_006724667.3:c.4125T>C	XP_006724730.1:p.Asp1375=
XM_006724668.3:c.4404T>C	XP_006724731.1:p.Asp1468=
XM_017029601.2:c.4314T>C	XP_016885090.1:p.Asp1438=
XM_017029602.1:c.4284T>C	XP_016885091.1:p.Asp1428=
XM_017029603.1:c.4236T>C	XP_016885092.1:p.Asp1412=
XM_017029604.2:c.4203T>C	XP_016885093.1:p.Asp1401=
XM_017029605.1:c.4200T>C	XP_016885094.1:p.Asp1400=
XM_017029606.2:c.4173T>C	XP_016885095.1:p.Asp1391=
XM_017029607.2:c.4170T>C	XP_016885096.1:p.Asp1390=
XM_017029608.2:c.4122T>C	XP_016885097.1:p.Asp1374=
XM_017029609.1:c.4086T>C	XP_016885098.1:p.Asp1362=
XM_017029610.1:c.4083T>C	XP_016885099.1:p.Asp1361=
XM_017029611.1:c.4038T>C	XP_016885100.1:p.Asp1346=
XR_001755700.2:n.4629T>C
NM_138270.4:c.4290T>C	NP_612114.2:p.Asp1430=
NM_000489.6:c.4404T>C MANE Select	NP_000480.3:p.Asp1468=
NM_138270.5:c.4290T>C	NP_612114.2:p.Asp1430=