Canonical Allele Identifier: CA413712655

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77682926C>T , CM000685.2:g.77682926C>T	GRCh38
NC_000023.10:g.76938418C>T , CM000685.1:g.76938418C>T	GRCh37
NC_000023.9:g.76825074C>T	NCBI36
NG_008838.2:g.108296G>A
NG_008838.3:g.108344G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.2330G>A MANE Select	NP_000480.3:p.Gly777Glu
ENST00000373344.11:c.2330G>A MANE Select	ENSP00000362441.4:p.Gly777Glu
NM_000489.4:c.2330G>A	NP_000480.3:p.Gly777Glu
NM_000489.5:c.2330G>A	NP_000480.3:p.Gly777Glu
NM_138270.3:c.2216G>A	NP_612114.2:p.Gly739Glu
NM_138270.4:c.2216G>A	NP_612114.2:p.Gly739Glu
NM_138270.5:c.2216G>A	NP_612114.2:p.Gly739Glu
ENST00000373344.9:c.2330G>A	ENSP00000362441.4:p.Gly777Glu
ENST00000395603.7:c.2216G>A	ENSP00000378967.3:p.Gly739Glu
ENST00000480283.5:c.*1958G>A	ENSP00000480196.1:n.*1958G>A
ENST00000624032.3:c.2243G>A	ENSP00000485253.1:p.Gly748Glu
ENST00000624166.3:c.2126G>A	ENSP00000485103.1:p.Gly709Glu
XM_005262153.3:c.2327G>A	XP_005262210.2:p.Gly776Glu
XM_005262153.5:c.2327G>A	XP_005262210.2:p.Gly776Glu
XM_005262154.3:c.2243G>A	XP_005262211.2:p.Gly748Glu
XM_005262154.5:c.2243G>A	XP_005262211.2:p.Gly748Glu
XM_005262155.3:c.2213G>A	XP_005262212.2:p.Gly738Glu
XM_005262155.4:c.2213G>A	XP_005262212.2:p.Gly738Glu
XM_005262156.3:c.2165G>A	XP_005262213.2:p.Gly722Glu
XM_005262156.4:c.2165G>A	XP_005262213.2:p.Gly722Glu
XM_005262157.3:c.2126G>A	XP_005262214.2:p.Gly709Glu
XM_005262157.5:c.2126G>A	XP_005262214.2:p.Gly709Glu
XM_006724666.2:c.2213G>A	XP_006724729.1:p.Gly738Glu
XM_006724666.4:c.2213G>A	XP_006724729.1:p.Gly738Glu
XM_006724667.2:c.2051G>A	XP_006724730.1:p.Gly684Glu
XM_006724667.3:c.2051G>A	XP_006724730.1:p.Gly684Glu
XM_006724668.2:c.2330G>A	XP_006724731.1:p.Gly777Glu
XM_006724668.3:c.2330G>A	XP_006724731.1:p.Gly777Glu
XM_017029601.2:c.2240G>A	XP_016885090.1:p.Gly747Glu
XM_017029602.1:c.2210G>A	XP_016885091.1:p.Gly737Glu
XM_017029603.1:c.2162G>A	XP_016885092.1:p.Gly721Glu
XM_017029604.2:c.2129G>A	XP_016885093.1:p.Gly710Glu
XM_017029605.1:c.2126G>A	XP_016885094.1:p.Gly709Glu
XM_017029606.2:c.2099G>A	XP_016885095.1:p.Gly700Glu
XM_017029607.2:c.2096G>A	XP_016885096.1:p.Gly699Glu
XM_017029608.2:c.2048G>A	XP_016885097.1:p.Gly683Glu
XM_017029609.1:c.2012G>A	XP_016885098.1:p.Gly671Glu
XM_017029610.1:c.2009G>A	XP_016885099.1:p.Gly670Glu
XM_017029611.1:c.1964G>A	XP_016885100.1:p.Gly655Glu
XR_001755700.2:n.2555G>A
XR_938400.1:n.2598G>A