Canonical Allele Identifier: CA413718236

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77683860T>A , CM000685.2:g.77683860T>A	GRCh38
NC_000023.10:g.76939352T>A , CM000685.1:g.76939352T>A	GRCh37
NC_000023.9:g.76826008T>A	NCBI36
NG_008838.2:g.107362A>T
NG_008838.3:g.107410A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.1396A>T MANE Select	NP_000480.3:p.Arg466Ter
ENST00000373344.11:c.1396A>T MANE Select	ENSP00000362441.4:p.Arg466Ter
NM_000489.4:c.1396A>T	NP_000480.3:p.Arg466Ter
NM_000489.5:c.1396A>T	NP_000480.3:p.Arg466Ter
NM_138270.3:c.1282A>T	NP_612114.2:p.Arg428Ter
NM_138270.4:c.1282A>T	NP_612114.2:p.Arg428Ter
NM_138270.5:c.1282A>T	NP_612114.2:p.Arg428Ter
ENST00000373344.9:c.1396A>T	ENSP00000362441.4:p.Arg466Ter
ENST00000395603.7:c.1282A>T	ENSP00000378967.3:p.Arg428Ter
ENST00000480283.5:c.*1024A>T	ENSP00000480196.1:n.*1024A>T
ENST00000623321.3:c.1231A>T	ENSP00000485127.1:p.Arg411Ter
ENST00000624032.3:c.1396A>T	ENSP00000485253.1:p.Arg466Ter
ENST00000624166.3:c.1279A>T	ENSP00000485103.1:p.Arg427Ter
XM_005262153.3:c.1393A>T	XP_005262210.2:p.Arg465Ter
XM_005262153.5:c.1393A>T	XP_005262210.2:p.Arg465Ter
XM_005262154.3:c.1396A>T	XP_005262211.2:p.Arg466Ter
XM_005262154.5:c.1396A>T	XP_005262211.2:p.Arg466Ter
XM_005262155.3:c.1279A>T	XP_005262212.2:p.Arg427Ter
XM_005262155.4:c.1279A>T	XP_005262212.2:p.Arg427Ter
XM_005262156.3:c.1231A>T	XP_005262213.2:p.Arg411Ter
XM_005262156.4:c.1231A>T	XP_005262213.2:p.Arg411Ter
XM_005262157.3:c.1279A>T	XP_005262214.2:p.Arg427Ter
XM_005262157.5:c.1279A>T	XP_005262214.2:p.Arg427Ter
XM_006724666.2:c.1279A>T	XP_006724729.1:p.Arg427Ter
XM_006724666.4:c.1279A>T	XP_006724729.1:p.Arg427Ter
XM_006724667.2:c.1117A>T	XP_006724730.1:p.Arg373Ter
XM_006724667.3:c.1117A>T	XP_006724730.1:p.Arg373Ter
XM_006724668.2:c.1396A>T	XP_006724731.1:p.Arg466Ter
XM_006724668.3:c.1396A>T	XP_006724731.1:p.Arg466Ter
XM_017029601.2:c.1393A>T	XP_016885090.1:p.Arg465Ter
XM_017029602.1:c.1276A>T	XP_016885091.1:p.Arg426Ter
XM_017029603.1:c.1228A>T	XP_016885092.1:p.Arg410Ter
XM_017029604.2:c.1282A>T	XP_016885093.1:p.Arg428Ter
XM_017029605.1:c.1279A>T	XP_016885094.1:p.Arg427Ter
XM_017029606.2:c.1165A>T	XP_016885095.1:p.Arg389Ter
XM_017029607.2:c.1162A>T	XP_016885096.1:p.Arg388Ter
XM_017029608.2:c.1114A>T	XP_016885097.1:p.Arg372Ter
XM_017029609.1:c.1165A>T	XP_016885098.1:p.Arg389Ter
XM_017029610.1:c.1162A>T	XP_016885099.1:p.Arg388Ter
XM_017029611.1:c.1117A>T	XP_016885100.1:p.Arg373Ter
XR_001755700.2:n.1621A>T
XR_938400.1:n.1664A>T