Canonical Allele Identifier: CA413710512
Community Standard Title: NM_000489.6(ATRX):c.2777G>A (p.Gly926Glu)
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77682479C>T , CM000685.2:g.77682479C>T GRCh38
NC_000023.10:g.76937971C>T , CM000685.1:g.76937971C>T GRCh37
NC_000023.9:g.76824627C>T NCBI36
NG_008838.2:g.108743G>A
NG_008838.3:g.108791G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000489.6:c.2777G>A MANE Select NP_000480.3:p.Gly926Glu
ENST00000373344.11:c.2777G>A MANE Select ENSP00000362441.4:p.Gly926Glu
NM_000489.4:c.2777G>A NP_000480.3:p.Gly926Glu
NM_000489.5:c.2777G>A NP_000480.3:p.Gly926Glu
NM_138270.3:c.2663G>A NP_612114.2:p.Gly888Glu
NM_138270.4:c.2663G>A NP_612114.2:p.Gly888Glu
NM_138270.5:c.2663G>A NP_612114.2:p.Gly888Glu
ENST00000373344.9:c.2777G>A ENSP00000362441.4:p.Gly926Glu
ENST00000395603.7:c.2663G>A ENSP00000378967.3:p.Gly888Glu
ENST00000480283.5:c.*2405G>A ENSP00000480196.1:n.*2405G>A
ENST00000624032.3:c.2690G>A ENSP00000485253.1:p.Gly897Glu
ENST00000624166.3:c.2573G>A ENSP00000485103.1:p.Gly858Glu
XM_005262153.3:c.2774G>A XP_005262210.2:p.Gly925Glu
XM_005262153.5:c.2774G>A XP_005262210.2:p.Gly925Glu
XM_005262154.3:c.2690G>A XP_005262211.2:p.Gly897Glu
XM_005262154.5:c.2690G>A XP_005262211.2:p.Gly897Glu
XM_005262155.3:c.2660G>A XP_005262212.2:p.Gly887Glu
XM_005262155.4:c.2660G>A XP_005262212.2:p.Gly887Glu
XM_005262156.3:c.2612G>A XP_005262213.2:p.Gly871Glu
XM_005262156.4:c.2612G>A XP_005262213.2:p.Gly871Glu
XM_005262157.3:c.2573G>A XP_005262214.2:p.Gly858Glu
XM_005262157.5:c.2573G>A XP_005262214.2:p.Gly858Glu
XM_006724666.2:c.2660G>A XP_006724729.1:p.Gly887Glu
XM_006724666.4:c.2660G>A XP_006724729.1:p.Gly887Glu
XM_006724667.2:c.2498G>A XP_006724730.1:p.Gly833Glu
XM_006724667.3:c.2498G>A XP_006724730.1:p.Gly833Glu
XM_006724668.2:c.2777G>A XP_006724731.1:p.Gly926Glu
XM_006724668.3:c.2777G>A XP_006724731.1:p.Gly926Glu
XM_017029601.2:c.2687G>A XP_016885090.1:p.Gly896Glu
XM_017029602.1:c.2657G>A XP_016885091.1:p.Gly886Glu
XM_017029603.1:c.2609G>A XP_016885092.1:p.Gly870Glu
XM_017029604.2:c.2576G>A XP_016885093.1:p.Gly859Glu
XM_017029605.1:c.2573G>A XP_016885094.1:p.Gly858Glu
XM_017029606.2:c.2546G>A XP_016885095.1:p.Gly849Glu
XM_017029607.2:c.2543G>A XP_016885096.1:p.Gly848Glu
XM_017029608.2:c.2495G>A XP_016885097.1:p.Gly832Glu
XM_017029609.1:c.2459G>A XP_016885098.1:p.Gly820Glu
XM_017029610.1:c.2456G>A XP_016885099.1:p.Gly819Glu
XM_017029611.1:c.2411G>A XP_016885100.1:p.Gly804Glu
XR_001755700.2:n.3002G>A
XR_938400.1:n.3045G>A