Canonical Allele Identifier: CA413706974

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77681978C>A , CM000685.2:g.77681978C>A	GRCh38
NC_000023.10:g.76937470C>A , CM000685.1:g.76937470C>A	GRCh37
NC_000023.9:g.76824126C>A	NCBI36
NG_008838.2:g.109244G>T
NG_008838.3:g.109292G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.3278G>T MANE Select	NP_000480.3:p.Arg1093Met
ENST00000373344.11:c.3278G>T MANE Select	ENSP00000362441.4:p.Arg1093Met
NM_000489.4:c.3278G>T	NP_000480.3:p.Arg1093Met
NM_000489.5:c.3278G>T	NP_000480.3:p.Arg1093Met
NM_138270.3:c.3164G>T	NP_612114.2:p.Arg1055Met
NM_138270.4:c.3164G>T	NP_612114.2:p.Arg1055Met
NM_138270.5:c.3164G>T	NP_612114.2:p.Arg1055Met
ENST00000373344.9:c.3278G>T	ENSP00000362441.4:p.Arg1093Met
ENST00000395603.7:c.3164G>T	ENSP00000378967.3:p.Arg1055Met
ENST00000480283.5:c.*2906G>T	ENSP00000480196.1:n.*2906G>T
ENST00000493470.2:c.164G>T	ENSP00000485408.1:p.Arg55Met
ENST00000624166.3:c.3074G>T	ENSP00000485103.1:p.Arg1025Met
XM_005262153.3:c.3275G>T	XP_005262210.2:p.Arg1092Met
XM_005262153.5:c.3275G>T	XP_005262210.2:p.Arg1092Met
XM_005262154.3:c.3191G>T	XP_005262211.2:p.Arg1064Met
XM_005262154.5:c.3191G>T	XP_005262211.2:p.Arg1064Met
XM_005262155.3:c.3161G>T	XP_005262212.2:p.Arg1054Met
XM_005262155.4:c.3161G>T	XP_005262212.2:p.Arg1054Met
XM_005262156.3:c.3113G>T	XP_005262213.2:p.Arg1038Met
XM_005262156.4:c.3113G>T	XP_005262213.2:p.Arg1038Met
XM_005262157.3:c.3074G>T	XP_005262214.2:p.Arg1025Met
XM_005262157.5:c.3074G>T	XP_005262214.2:p.Arg1025Met
XM_006724666.2:c.3161G>T	XP_006724729.1:p.Arg1054Met
XM_006724666.4:c.3161G>T	XP_006724729.1:p.Arg1054Met
XM_006724667.2:c.2999G>T	XP_006724730.1:p.Arg1000Met
XM_006724667.3:c.2999G>T	XP_006724730.1:p.Arg1000Met
XM_006724668.2:c.3278G>T	XP_006724731.1:p.Arg1093Met
XM_006724668.3:c.3278G>T	XP_006724731.1:p.Arg1093Met
XM_017029601.2:c.3188G>T	XP_016885090.1:p.Arg1063Met
XM_017029602.1:c.3158G>T	XP_016885091.1:p.Arg1053Met
XM_017029603.1:c.3110G>T	XP_016885092.1:p.Arg1037Met
XM_017029604.2:c.3077G>T	XP_016885093.1:p.Arg1026Met
XM_017029605.1:c.3074G>T	XP_016885094.1:p.Arg1025Met
XM_017029606.2:c.3047G>T	XP_016885095.1:p.Arg1016Met
XM_017029607.2:c.3044G>T	XP_016885096.1:p.Arg1015Met
XM_017029608.2:c.2996G>T	XP_016885097.1:p.Arg999Met
XM_017029609.1:c.2960G>T	XP_016885098.1:p.Arg987Met
XM_017029610.1:c.2957G>T	XP_016885099.1:p.Arg986Met
XM_017029611.1:c.2912G>T	XP_016885100.1:p.Arg971Met
XR_001755700.2:n.3503G>T
XR_938400.1:n.3546G>T