Canonical Allele Identifier: CA413699510

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77663433T>A , CM000685.2:g.77663433T>A	GRCh38
NC_000023.10:g.76918922T>A , CM000685.1:g.76918922T>A	GRCh37
NC_000023.9:g.76805578T>A	NCBI36
NG_008838.2:g.127789A>T
NG_008838.3:g.127837A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.4069A>T MANE Select	NP_000480.3:p.Lys1357Ter
ENST00000373344.11:c.4069A>T MANE Select	ENSP00000362441.4:p.Lys1357Ter
NM_000489.4:c.4069A>T	NP_000480.3:p.Lys1357Ter
NM_000489.5:c.4069A>T	NP_000480.3:p.Lys1357Ter
NM_138270.3:c.3955A>T	NP_612114.2:p.Lys1319Ter
NM_138270.4:c.3955A>T	NP_612114.2:p.Lys1319Ter
NM_138270.5:c.3955A>T	NP_612114.2:p.Lys1319Ter
ENST00000373344.9:c.4069A>T	ENSP00000362441.4:p.Lys1357Ter
ENST00000395603.7:c.3955A>T	ENSP00000378967.3:p.Lys1319Ter
ENST00000480283.5:c.*3697A>T	ENSP00000480196.1:n.*3697A>T
ENST00000624166.3:c.3865A>T	ENSP00000485103.1:p.Lys1289Ter
XM_005262153.3:c.4066A>T	XP_005262210.2:p.Lys1356Ter
XM_005262153.5:c.4066A>T	XP_005262210.2:p.Lys1356Ter
XM_005262154.3:c.3982A>T	XP_005262211.2:p.Lys1328Ter
XM_005262154.5:c.3982A>T	XP_005262211.2:p.Lys1328Ter
XM_005262155.3:c.3952A>T	XP_005262212.2:p.Lys1318Ter
XM_005262155.4:c.3952A>T	XP_005262212.2:p.Lys1318Ter
XM_005262156.3:c.3904A>T	XP_005262213.2:p.Lys1302Ter
XM_005262156.4:c.3904A>T	XP_005262213.2:p.Lys1302Ter
XM_005262157.3:c.3865A>T	XP_005262214.2:p.Lys1289Ter
XM_005262157.5:c.3865A>T	XP_005262214.2:p.Lys1289Ter
XM_006724666.2:c.3952A>T	XP_006724729.1:p.Lys1318Ter
XM_006724666.4:c.3952A>T	XP_006724729.1:p.Lys1318Ter
XM_006724667.2:c.3790A>T	XP_006724730.1:p.Lys1264Ter
XM_006724667.3:c.3790A>T	XP_006724730.1:p.Lys1264Ter
XM_006724668.2:c.4069A>T	XP_006724731.1:p.Lys1357Ter
XM_006724668.3:c.4069A>T	XP_006724731.1:p.Lys1357Ter
XM_017029601.2:c.3979A>T	XP_016885090.1:p.Lys1327Ter
XM_017029602.1:c.3949A>T	XP_016885091.1:p.Lys1317Ter
XM_017029603.1:c.3901A>T	XP_016885092.1:p.Lys1301Ter
XM_017029604.2:c.3868A>T	XP_016885093.1:p.Lys1290Ter
XM_017029605.1:c.3865A>T	XP_016885094.1:p.Lys1289Ter
XM_017029606.2:c.3838A>T	XP_016885095.1:p.Lys1280Ter
XM_017029607.2:c.3835A>T	XP_016885096.1:p.Lys1279Ter
XM_017029608.2:c.3787A>T	XP_016885097.1:p.Lys1263Ter
XM_017029609.1:c.3751A>T	XP_016885098.1:p.Lys1251Ter
XM_017029610.1:c.3748A>T	XP_016885099.1:p.Lys1250Ter
XM_017029611.1:c.3703A>T	XP_016885100.1:p.Lys1235Ter
XR_001755700.2:n.4294A>T
XR_938400.1:n.4337A>T