Canonical Allele Identifier: CA413707602
Community Standard Title: NM_000489.6(ATRX):c.3152A>G (p.Asp1051Gly)
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77682104T>C , CM000685.2:g.77682104T>C GRCh38
NC_000023.10:g.76937596T>C , CM000685.1:g.76937596T>C GRCh37
NC_000023.9:g.76824252T>C NCBI36
NG_008838.2:g.109118A>G
NG_008838.3:g.109166A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000489.6:c.3152A>G MANE Select NP_000480.3:p.Asp1051Gly
ENST00000373344.11:c.3152A>G MANE Select ENSP00000362441.4:p.Asp1051Gly
NM_000489.4:c.3152A>G NP_000480.3:p.Asp1051Gly
NM_000489.5:c.3152A>G NP_000480.3:p.Asp1051Gly
NM_138270.3:c.3038A>G NP_612114.2:p.Asp1013Gly
NM_138270.4:c.3038A>G NP_612114.2:p.Asp1013Gly
NM_138270.5:c.3038A>G NP_612114.2:p.Asp1013Gly
ENST00000373344.9:c.3152A>G ENSP00000362441.4:p.Asp1051Gly
ENST00000395603.7:c.3038A>G ENSP00000378967.3:p.Asp1013Gly
ENST00000480283.5:c.*2780A>G ENSP00000480196.1:n.*2780A>G
ENST00000493470.2:c.38A>G ENSP00000485408.1:p.Asp13Gly
ENST00000624166.3:c.2948A>G ENSP00000485103.1:p.Asp983Gly
XM_005262153.3:c.3149A>G XP_005262210.2:p.Asp1050Gly
XM_005262153.5:c.3149A>G XP_005262210.2:p.Asp1050Gly
XM_005262154.3:c.3065A>G XP_005262211.2:p.Asp1022Gly
XM_005262154.5:c.3065A>G XP_005262211.2:p.Asp1022Gly
XM_005262155.3:c.3035A>G XP_005262212.2:p.Asp1012Gly
XM_005262155.4:c.3035A>G XP_005262212.2:p.Asp1012Gly
XM_005262156.3:c.2987A>G XP_005262213.2:p.Asp996Gly
XM_005262156.4:c.2987A>G XP_005262213.2:p.Asp996Gly
XM_005262157.3:c.2948A>G XP_005262214.2:p.Asp983Gly
XM_005262157.5:c.2948A>G XP_005262214.2:p.Asp983Gly
XM_006724666.2:c.3035A>G XP_006724729.1:p.Asp1012Gly
XM_006724666.4:c.3035A>G XP_006724729.1:p.Asp1012Gly
XM_006724667.2:c.2873A>G XP_006724730.1:p.Asp958Gly
XM_006724667.3:c.2873A>G XP_006724730.1:p.Asp958Gly
XM_006724668.2:c.3152A>G XP_006724731.1:p.Asp1051Gly
XM_006724668.3:c.3152A>G XP_006724731.1:p.Asp1051Gly
XM_017029601.2:c.3062A>G XP_016885090.1:p.Asp1021Gly
XM_017029602.1:c.3032A>G XP_016885091.1:p.Asp1011Gly
XM_017029603.1:c.2984A>G XP_016885092.1:p.Asp995Gly
XM_017029604.2:c.2951A>G XP_016885093.1:p.Asp984Gly
XM_017029605.1:c.2948A>G XP_016885094.1:p.Asp983Gly
XM_017029606.2:c.2921A>G XP_016885095.1:p.Asp974Gly
XM_017029607.2:c.2918A>G XP_016885096.1:p.Asp973Gly
XM_017029608.2:c.2870A>G XP_016885097.1:p.Asp957Gly
XM_017029609.1:c.2834A>G XP_016885098.1:p.Asp945Gly
XM_017029610.1:c.2831A>G XP_016885099.1:p.Asp944Gly
XM_017029611.1:c.2786A>G XP_016885100.1:p.Asp929Gly
XR_001755700.2:n.3377A>G
XR_938400.1:n.3420A>G