Canonical Allele Identifier: CA413709910
Community Standard Title: NM_000489.6(ATRX):c.2890A>G (p.Ile964Val)
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77682366T>C , CM000685.2:g.77682366T>C GRCh38
NC_000023.10:g.76937858T>C , CM000685.1:g.76937858T>C GRCh37
NC_000023.9:g.76824514T>C NCBI36
NG_008838.2:g.108856A>G
NG_008838.3:g.108904A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000489.6:c.2890A>G MANE Select NP_000480.3:p.Ile964Val
ENST00000373344.11:c.2890A>G MANE Select ENSP00000362441.4:p.Ile964Val
NM_000489.4:c.2890A>G NP_000480.3:p.Ile964Val
NM_000489.5:c.2890A>G NP_000480.3:p.Ile964Val
NM_138270.3:c.2776A>G NP_612114.2:p.Ile926Val
NM_138270.4:c.2776A>G NP_612114.2:p.Ile926Val
NM_138270.5:c.2776A>G NP_612114.2:p.Ile926Val
ENST00000373344.9:c.2890A>G ENSP00000362441.4:p.Ile964Val
ENST00000395603.7:c.2776A>G ENSP00000378967.3:p.Ile926Val
ENST00000480283.5:c.*2518A>G ENSP00000480196.1:n.*2518A>G
ENST00000624032.3:c.2803A>G ENSP00000485253.1:p.Ile935Val
ENST00000624166.3:c.2686A>G ENSP00000485103.1:p.Ile896Val
XM_005262153.3:c.2887A>G XP_005262210.2:p.Ile963Val
XM_005262153.5:c.2887A>G XP_005262210.2:p.Ile963Val
XM_005262154.3:c.2803A>G XP_005262211.2:p.Ile935Val
XM_005262154.5:c.2803A>G XP_005262211.2:p.Ile935Val
XM_005262155.3:c.2773A>G XP_005262212.2:p.Ile925Val
XM_005262155.4:c.2773A>G XP_005262212.2:p.Ile925Val
XM_005262156.3:c.2725A>G XP_005262213.2:p.Ile909Val
XM_005262156.4:c.2725A>G XP_005262213.2:p.Ile909Val
XM_005262157.3:c.2686A>G XP_005262214.2:p.Ile896Val
XM_005262157.5:c.2686A>G XP_005262214.2:p.Ile896Val
XM_006724666.2:c.2773A>G XP_006724729.1:p.Ile925Val
XM_006724666.4:c.2773A>G XP_006724729.1:p.Ile925Val
XM_006724667.2:c.2611A>G XP_006724730.1:p.Ile871Val
XM_006724667.3:c.2611A>G XP_006724730.1:p.Ile871Val
XM_006724668.2:c.2890A>G XP_006724731.1:p.Ile964Val
XM_006724668.3:c.2890A>G XP_006724731.1:p.Ile964Val
XM_017029601.2:c.2800A>G XP_016885090.1:p.Ile934Val
XM_017029602.1:c.2770A>G XP_016885091.1:p.Ile924Val
XM_017029603.1:c.2722A>G XP_016885092.1:p.Ile908Val
XM_017029604.2:c.2689A>G XP_016885093.1:p.Ile897Val
XM_017029605.1:c.2686A>G XP_016885094.1:p.Ile896Val
XM_017029606.2:c.2659A>G XP_016885095.1:p.Ile887Val
XM_017029607.2:c.2656A>G XP_016885096.1:p.Ile886Val
XM_017029608.2:c.2608A>G XP_016885097.1:p.Ile870Val
XM_017029609.1:c.2572A>G XP_016885098.1:p.Ile858Val
XM_017029610.1:c.2569A>G XP_016885099.1:p.Ile857Val
XM_017029611.1:c.2524A>G XP_016885100.1:p.Ile842Val
XR_001755700.2:n.3115A>G
XR_938400.1:n.3158A>G