Canonical Allele Identifier: CA413710856

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77682545A>T , CM000685.2:g.77682545A>T	GRCh38
NC_000023.10:g.76938037A>T , CM000685.1:g.76938037A>T	GRCh37
NC_000023.9:g.76824693A>T	NCBI36
NG_008838.2:g.108677T>A
NG_008838.3:g.108725T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.2711T>A MANE Select	NP_000480.3:p.Leu904Ter
ENST00000373344.11:c.2711T>A MANE Select	ENSP00000362441.4:p.Leu904Ter
NM_000489.4:c.2711T>A	NP_000480.3:p.Leu904Ter
NM_000489.5:c.2711T>A	NP_000480.3:p.Leu904Ter
NM_138270.3:c.2597T>A	NP_612114.2:p.Leu866Ter
NM_138270.4:c.2597T>A	NP_612114.2:p.Leu866Ter
NM_138270.5:c.2597T>A	NP_612114.2:p.Leu866Ter
ENST00000373344.9:c.2711T>A	ENSP00000362441.4:p.Leu904Ter
ENST00000395603.7:c.2597T>A	ENSP00000378967.3:p.Leu866Ter
ENST00000480283.5:c.*2339T>A	ENSP00000480196.1:n.*2339T>A
ENST00000624032.3:c.2624T>A	ENSP00000485253.1:p.Leu875Ter
ENST00000624166.3:c.2507T>A	ENSP00000485103.1:p.Leu836Ter
XM_005262153.3:c.2708T>A	XP_005262210.2:p.Leu903Ter
XM_005262153.5:c.2708T>A	XP_005262210.2:p.Leu903Ter
XM_005262154.3:c.2624T>A	XP_005262211.2:p.Leu875Ter
XM_005262154.5:c.2624T>A	XP_005262211.2:p.Leu875Ter
XM_005262155.3:c.2594T>A	XP_005262212.2:p.Leu865Ter
XM_005262155.4:c.2594T>A	XP_005262212.2:p.Leu865Ter
XM_005262156.3:c.2546T>A	XP_005262213.2:p.Leu849Ter
XM_005262156.4:c.2546T>A	XP_005262213.2:p.Leu849Ter
XM_005262157.3:c.2507T>A	XP_005262214.2:p.Leu836Ter
XM_005262157.5:c.2507T>A	XP_005262214.2:p.Leu836Ter
XM_006724666.2:c.2594T>A	XP_006724729.1:p.Leu865Ter
XM_006724666.4:c.2594T>A	XP_006724729.1:p.Leu865Ter
XM_006724667.2:c.2432T>A	XP_006724730.1:p.Leu811Ter
XM_006724667.3:c.2432T>A	XP_006724730.1:p.Leu811Ter
XM_006724668.2:c.2711T>A	XP_006724731.1:p.Leu904Ter
XM_006724668.3:c.2711T>A	XP_006724731.1:p.Leu904Ter
XM_017029601.2:c.2621T>A	XP_016885090.1:p.Leu874Ter
XM_017029602.1:c.2591T>A	XP_016885091.1:p.Leu864Ter
XM_017029603.1:c.2543T>A	XP_016885092.1:p.Leu848Ter
XM_017029604.2:c.2510T>A	XP_016885093.1:p.Leu837Ter
XM_017029605.1:c.2507T>A	XP_016885094.1:p.Leu836Ter
XM_017029606.2:c.2480T>A	XP_016885095.1:p.Leu827Ter
XM_017029607.2:c.2477T>A	XP_016885096.1:p.Leu826Ter
XM_017029608.2:c.2429T>A	XP_016885097.1:p.Leu810Ter
XM_017029609.1:c.2393T>A	XP_016885098.1:p.Leu798Ter
XM_017029610.1:c.2390T>A	XP_016885099.1:p.Leu797Ter
XM_017029611.1:c.2345T>A	XP_016885100.1:p.Leu782Ter
XR_001755700.2:n.2936T>A
XR_938400.1:n.2979T>A