Canonical Allele Identifier: CA16621505
Community Standard Title: NM_000489.6(ATRX):c.4070A>G (p.Lys1357Arg)
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77663432T>C , CM000685.2:g.77663432T>C GRCh38
NC_000023.10:g.76918921T>C , CM000685.1:g.76918921T>C GRCh37
NC_000023.9:g.76805577T>C NCBI36
NG_008838.2:g.127790A>G
NG_008838.3:g.127838A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000489.6:c.4070A>G MANE Select NP_000480.3:p.Lys1357Arg
ENST00000373344.11:c.4070A>G MANE Select ENSP00000362441.4:p.Lys1357Arg
NM_000489.4:c.4070A>G NP_000480.3:p.Lys1357Arg
NM_000489.5:c.4070A>G NP_000480.3:p.Lys1357Arg
NM_138270.3:c.3956A>G NP_612114.2:p.Lys1319Arg
NM_138270.4:c.3956A>G NP_612114.2:p.Lys1319Arg
NM_138270.5:c.3956A>G NP_612114.2:p.Lys1319Arg
ENST00000373344.9:c.4070A>G ENSP00000362441.4:p.Lys1357Arg
ENST00000395603.7:c.3956A>G ENSP00000378967.3:p.Lys1319Arg
ENST00000480283.5:c.*3698A>G ENSP00000480196.1:n.*3698A>G
ENST00000624166.3:c.3866A>G ENSP00000485103.1:p.Lys1289Arg
XM_005262153.3:c.4067A>G XP_005262210.2:p.Lys1356Arg
XM_005262153.5:c.4067A>G XP_005262210.2:p.Lys1356Arg
XM_005262154.3:c.3983A>G XP_005262211.2:p.Lys1328Arg
XM_005262154.5:c.3983A>G XP_005262211.2:p.Lys1328Arg
XM_005262155.3:c.3953A>G XP_005262212.2:p.Lys1318Arg
XM_005262155.4:c.3953A>G XP_005262212.2:p.Lys1318Arg
XM_005262156.3:c.3905A>G XP_005262213.2:p.Lys1302Arg
XM_005262156.4:c.3905A>G XP_005262213.2:p.Lys1302Arg
XM_005262157.3:c.3866A>G XP_005262214.2:p.Lys1289Arg
XM_005262157.5:c.3866A>G XP_005262214.2:p.Lys1289Arg
XM_006724666.2:c.3953A>G XP_006724729.1:p.Lys1318Arg
XM_006724666.4:c.3953A>G XP_006724729.1:p.Lys1318Arg
XM_006724667.2:c.3791A>G XP_006724730.1:p.Lys1264Arg
XM_006724667.3:c.3791A>G XP_006724730.1:p.Lys1264Arg
XM_006724668.2:c.4070A>G XP_006724731.1:p.Lys1357Arg
XM_006724668.3:c.4070A>G XP_006724731.1:p.Lys1357Arg
XM_017029601.2:c.3980A>G XP_016885090.1:p.Lys1327Arg
XM_017029602.1:c.3950A>G XP_016885091.1:p.Lys1317Arg
XM_017029603.1:c.3902A>G XP_016885092.1:p.Lys1301Arg
XM_017029604.2:c.3869A>G XP_016885093.1:p.Lys1290Arg
XM_017029605.1:c.3866A>G XP_016885094.1:p.Lys1289Arg
XM_017029606.2:c.3839A>G XP_016885095.1:p.Lys1280Arg
XM_017029607.2:c.3836A>G XP_016885096.1:p.Lys1279Arg
XM_017029608.2:c.3788A>G XP_016885097.1:p.Lys1263Arg
XM_017029609.1:c.3752A>G XP_016885098.1:p.Lys1251Arg
XM_017029610.1:c.3749A>G XP_016885099.1:p.Lys1250Arg
XM_017029611.1:c.3704A>G XP_016885100.1:p.Lys1235Arg
XR_001755700.2:n.4295A>G
XR_938400.1:n.4338A>G