Canonical Allele Identifier: CA10458056

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77682641T>A , CM000685.2:g.77682641T>A	GRCh38
NC_000023.10:g.76938133T>A , CM000685.1:g.76938133T>A	GRCh37
NC_000023.9:g.76824789T>A	NCBI36
NG_008838.2:g.108581A>T
NG_008838.3:g.108629A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.2615A>T MANE Select	NP_000480.3:p.Gln872Leu
ENST00000373344.11:c.2615A>T MANE Select	ENSP00000362441.4:p.Gln872Leu
NM_000489.4:c.2615A>T	NP_000480.3:p.Gln872Leu
NM_000489.5:c.2615A>T	NP_000480.3:p.Gln872Leu
NM_138270.3:c.2501A>T	NP_612114.2:p.Gln834Leu
NM_138270.4:c.2501A>T	NP_612114.2:p.Gln834Leu
NM_138270.5:c.2501A>T	NP_612114.2:p.Gln834Leu
ENST00000373344.9:c.2615A>T	ENSP00000362441.4:p.Gln872Leu
ENST00000395603.7:c.2501A>T	ENSP00000378967.3:p.Gln834Leu
ENST00000480283.5:c.*2243A>T	ENSP00000480196.1:n.*2243A>T
ENST00000624032.3:c.2528A>T	ENSP00000485253.1:p.Gln843Leu
ENST00000624166.3:c.2411A>T	ENSP00000485103.1:p.Gln804Leu
XM_005262153.3:c.2612A>T	XP_005262210.2:p.Gln871Leu
XM_005262153.5:c.2612A>T	XP_005262210.2:p.Gln871Leu
XM_005262154.3:c.2528A>T	XP_005262211.2:p.Gln843Leu
XM_005262154.5:c.2528A>T	XP_005262211.2:p.Gln843Leu
XM_005262155.3:c.2498A>T	XP_005262212.2:p.Gln833Leu
XM_005262155.4:c.2498A>T	XP_005262212.2:p.Gln833Leu
XM_005262156.3:c.2450A>T	XP_005262213.2:p.Gln817Leu
XM_005262156.4:c.2450A>T	XP_005262213.2:p.Gln817Leu
XM_005262157.3:c.2411A>T	XP_005262214.2:p.Gln804Leu
XM_005262157.5:c.2411A>T	XP_005262214.2:p.Gln804Leu
XM_006724666.2:c.2498A>T	XP_006724729.1:p.Gln833Leu
XM_006724666.4:c.2498A>T	XP_006724729.1:p.Gln833Leu
XM_006724667.2:c.2336A>T	XP_006724730.1:p.Gln779Leu
XM_006724667.3:c.2336A>T	XP_006724730.1:p.Gln779Leu
XM_006724668.2:c.2615A>T	XP_006724731.1:p.Gln872Leu
XM_006724668.3:c.2615A>T	XP_006724731.1:p.Gln872Leu
XM_017029601.2:c.2525A>T	XP_016885090.1:p.Gln842Leu
XM_017029602.1:c.2495A>T	XP_016885091.1:p.Gln832Leu
XM_017029603.1:c.2447A>T	XP_016885092.1:p.Gln816Leu
XM_017029604.2:c.2414A>T	XP_016885093.1:p.Gln805Leu
XM_017029605.1:c.2411A>T	XP_016885094.1:p.Gln804Leu
XM_017029606.2:c.2384A>T	XP_016885095.1:p.Gln795Leu
XM_017029607.2:c.2381A>T	XP_016885096.1:p.Gln794Leu
XM_017029608.2:c.2333A>T	XP_016885097.1:p.Gln778Leu
XM_017029609.1:c.2297A>T	XP_016885098.1:p.Gln766Leu
XM_017029610.1:c.2294A>T	XP_016885099.1:p.Gln765Leu
XM_017029611.1:c.2249A>T	XP_016885100.1:p.Gln750Leu
XR_001755700.2:n.2840A>T
XR_938400.1:n.2883A>T