Canonical Allele Identifier: CA413720775

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77684519C>A , CM000685.2:g.77684519C>A	GRCh38
NC_000023.10:g.76940011C>A , CM000685.1:g.76940011C>A	GRCh37
NC_000023.9:g.76826667C>A	NCBI36
NG_008838.2:g.106703G>T
NG_008838.3:g.106751G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.737G>T MANE Select	NP_000480.3:p.Arg246Leu
ENST00000373344.11:c.737G>T MANE Select	ENSP00000362441.4:p.Arg246Leu
NM_000489.4:c.737G>T	NP_000480.3:p.Arg246Leu
NM_000489.5:c.737G>T	NP_000480.3:p.Arg246Leu
NM_138270.3:c.623G>T	NP_612114.2:p.Arg208Leu
NM_138270.4:c.623G>T	NP_612114.2:p.Arg208Leu
NM_138270.5:c.623G>T	NP_612114.2:p.Arg208Leu
ENST00000373344.9:c.737G>T	ENSP00000362441.4:p.Arg246Leu
ENST00000395603.7:c.623G>T	ENSP00000378967.3:p.Arg208Leu
ENST00000480283.5:c.*365G>T	ENSP00000480196.1:n.*365G>T
ENST00000623321.3:c.572G>T	ENSP00000485127.1:p.Arg191Leu
ENST00000624032.3:c.737G>T	ENSP00000485253.1:p.Arg246Leu
ENST00000624166.3:c.620G>T	ENSP00000485103.1:p.Arg207Leu
ENST00000625063.3:c.552G>T
XM_005262153.3:c.734G>T	XP_005262210.2:p.Arg245Leu
XM_005262153.5:c.734G>T	XP_005262210.2:p.Arg245Leu
XM_005262154.3:c.737G>T	XP_005262211.2:p.Arg246Leu
XM_005262154.5:c.737G>T	XP_005262211.2:p.Arg246Leu
XM_005262155.3:c.620G>T	XP_005262212.2:p.Arg207Leu
XM_005262155.4:c.620G>T	XP_005262212.2:p.Arg207Leu
XM_005262156.3:c.572G>T	XP_005262213.2:p.Arg191Leu
XM_005262156.4:c.572G>T	XP_005262213.2:p.Arg191Leu
XM_005262157.3:c.620G>T	XP_005262214.2:p.Arg207Leu
XM_005262157.5:c.620G>T	XP_005262214.2:p.Arg207Leu
XM_006724666.2:c.620G>T	XP_006724729.1:p.Arg207Leu
XM_006724666.4:c.620G>T	XP_006724729.1:p.Arg207Leu
XM_006724667.2:c.458G>T	XP_006724730.1:p.Arg153Leu
XM_006724667.3:c.458G>T	XP_006724730.1:p.Arg153Leu
XM_006724668.2:c.737G>T	XP_006724731.1:p.Arg246Leu
XM_006724668.3:c.737G>T	XP_006724731.1:p.Arg246Leu
XM_017029601.2:c.734G>T	XP_016885090.1:p.Arg245Leu
XM_017029602.1:c.617G>T	XP_016885091.1:p.Arg206Leu
XM_017029603.1:c.569G>T	XP_016885092.1:p.Arg190Leu
XM_017029604.2:c.623G>T	XP_016885093.1:p.Arg208Leu
XM_017029605.1:c.620G>T	XP_016885094.1:p.Arg207Leu
XM_017029606.2:c.506G>T	XP_016885095.1:p.Arg169Leu
XM_017029607.2:c.503G>T	XP_016885096.1:p.Arg168Leu
XM_017029608.2:c.455G>T	XP_016885097.1:p.Arg152Leu
XM_017029609.1:c.506G>T	XP_016885098.1:p.Arg169Leu
XM_017029610.1:c.503G>T	XP_016885099.1:p.Arg168Leu
XM_017029611.1:c.458G>T	XP_016885100.1:p.Arg153Leu
XR_001755700.2:n.962G>T
XR_938400.1:n.1005G>T