Canonical Allele Identifier: CA413707800

Gene: ATRX

Linked Data

• dbSNP Id: rs2148435785
• MyVariant Identifiers: chrX:g.76907632C>T (hg19) ; chrX:g.77652142C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652142C>T , CM000685.2:g.77652142C>T	GRCh38
NC_000023.10:g.76907632C>T , CM000685.1:g.76907632C>T	GRCh37
NC_000023.9:g.76794288C>T	NCBI36
NG_008838.2:g.139080G>A
NG_008838.3:g.139128G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4529G>A MANE Select	ENSP00000362441.4:p.Arg1510Lys
ENST00000373344.9:c.4529G>A	ENSP00000362441.4:p.Arg1510Lys
ENST00000395603.7:c.4415G>A	ENSP00000378967.3:p.Arg1472Lys
ENST00000460639.2:n.9G>A
ENST00000480283.5:c.*4157G>A	ENSP00000480196.1:n.*4157G>A
ENST00000623242.3:c.135G>A
NM_000489.4:c.4529G>A	NP_000480.3:p.Arg1510Lys
NM_138270.3:c.4415G>A	NP_612114.2:p.Arg1472Lys
XM_005262153.3:c.4526G>A	XP_005262210.2:p.Arg1509Lys
XM_005262154.3:c.4442G>A	XP_005262211.2:p.Arg1481Lys
XM_005262155.3:c.4412G>A	XP_005262212.2:p.Arg1471Lys
XM_005262156.3:c.4364G>A	XP_005262213.2:p.Arg1455Lys
XM_005262157.3:c.4325G>A	XP_005262214.2:p.Arg1442Lys
XM_006724666.2:c.4412G>A	XP_006724729.1:p.Arg1471Lys
XM_006724667.2:c.4250G>A	XP_006724730.1:p.Arg1417Lys
XM_006724668.2:c.4529G>A	XP_006724731.1:p.Arg1510Lys
XR_938400.1:n.4797G>A
NM_000489.5:c.4529G>A	NP_000480.3:p.Arg1510Lys
XM_005262153.5:c.4526G>A	XP_005262210.2:p.Arg1509Lys
XM_005262154.5:c.4442G>A	XP_005262211.2:p.Arg1481Lys
XM_005262155.4:c.4412G>A	XP_005262212.2:p.Arg1471Lys
XM_005262156.4:c.4364G>A	XP_005262213.2:p.Arg1455Lys
XM_005262157.5:c.4325G>A	XP_005262214.2:p.Arg1442Lys
XM_006724666.4:c.4412G>A	XP_006724729.1:p.Arg1471Lys
XM_006724667.3:c.4250G>A	XP_006724730.1:p.Arg1417Lys
XM_006724668.3:c.4529G>A	XP_006724731.1:p.Arg1510Lys
XM_017029601.2:c.4439G>A	XP_016885090.1:p.Arg1480Lys
XM_017029602.1:c.4409G>A	XP_016885091.1:p.Arg1470Lys
XM_017029603.1:c.4361G>A	XP_016885092.1:p.Arg1454Lys
XM_017029604.2:c.4328G>A	XP_016885093.1:p.Arg1443Lys
XM_017029605.1:c.4325G>A	XP_016885094.1:p.Arg1442Lys
XM_017029606.2:c.4298G>A	XP_016885095.1:p.Arg1433Lys
XM_017029607.2:c.4295G>A	XP_016885096.1:p.Arg1432Lys
XM_017029608.2:c.4247G>A	XP_016885097.1:p.Arg1416Lys
XM_017029609.1:c.4211G>A	XP_016885098.1:p.Arg1404Lys
XM_017029610.1:c.4208G>A	XP_016885099.1:p.Arg1403Lys
XM_017029611.1:c.4163G>A	XP_016885100.1:p.Arg1388Lys
XR_001755700.2:n.4754G>A
NM_138270.4:c.4415G>A	NP_612114.2:p.Arg1472Lys
NM_000489.6:c.4529G>A MANE Select	NP_000480.3:p.Arg1510Lys
NM_138270.5:c.4415G>A	NP_612114.2:p.Arg1472Lys