Canonical Allele Identifier: CA10458001

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77682189C>G , CM000685.2:g.77682189C>G	GRCh38
NC_000023.10:g.76937681C>G , CM000685.1:g.76937681C>G	GRCh37
NC_000023.9:g.76824337C>G	NCBI36
NG_008838.2:g.109033G>C
NG_008838.3:g.109081G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.3067G>C MANE Select	NP_000480.3:p.Glu1023Gln
ENST00000373344.11:c.3067G>C MANE Select	ENSP00000362441.4:p.Glu1023Gln
NM_000489.4:c.3067G>C	NP_000480.3:p.Glu1023Gln
NM_000489.5:c.3067G>C	NP_000480.3:p.Glu1023Gln
NM_138270.3:c.2953G>C	NP_612114.2:p.Glu985Gln
NM_138270.4:c.2953G>C	NP_612114.2:p.Glu985Gln
NM_138270.5:c.2953G>C	NP_612114.2:p.Glu985Gln
ENST00000373344.9:c.3067G>C	ENSP00000362441.4:p.Glu1023Gln
ENST00000395603.7:c.2953G>C	ENSP00000378967.3:p.Glu985Gln
ENST00000480283.5:c.*2695G>C	ENSP00000480196.1:n.*2695G>C
ENST00000624166.3:c.2863G>C	ENSP00000485103.1:p.Glu955Gln
XM_005262153.3:c.3064G>C	XP_005262210.2:p.Glu1022Gln
XM_005262153.5:c.3064G>C	XP_005262210.2:p.Glu1022Gln
XM_005262154.3:c.2980G>C	XP_005262211.2:p.Glu994Gln
XM_005262154.5:c.2980G>C	XP_005262211.2:p.Glu994Gln
XM_005262155.3:c.2950G>C	XP_005262212.2:p.Glu984Gln
XM_005262155.4:c.2950G>C	XP_005262212.2:p.Glu984Gln
XM_005262156.3:c.2902G>C	XP_005262213.2:p.Glu968Gln
XM_005262156.4:c.2902G>C	XP_005262213.2:p.Glu968Gln
XM_005262157.3:c.2863G>C	XP_005262214.2:p.Glu955Gln
XM_005262157.5:c.2863G>C	XP_005262214.2:p.Glu955Gln
XM_006724666.2:c.2950G>C	XP_006724729.1:p.Glu984Gln
XM_006724666.4:c.2950G>C	XP_006724729.1:p.Glu984Gln
XM_006724667.2:c.2788G>C	XP_006724730.1:p.Glu930Gln
XM_006724667.3:c.2788G>C	XP_006724730.1:p.Glu930Gln
XM_006724668.2:c.3067G>C	XP_006724731.1:p.Glu1023Gln
XM_006724668.3:c.3067G>C	XP_006724731.1:p.Glu1023Gln
XM_017029601.2:c.2977G>C	XP_016885090.1:p.Glu993Gln
XM_017029602.1:c.2947G>C	XP_016885091.1:p.Glu983Gln
XM_017029603.1:c.2899G>C	XP_016885092.1:p.Glu967Gln
XM_017029604.2:c.2866G>C	XP_016885093.1:p.Glu956Gln
XM_017029605.1:c.2863G>C	XP_016885094.1:p.Glu955Gln
XM_017029606.2:c.2836G>C	XP_016885095.1:p.Glu946Gln
XM_017029607.2:c.2833G>C	XP_016885096.1:p.Glu945Gln
XM_017029608.2:c.2785G>C	XP_016885097.1:p.Glu929Gln
XM_017029609.1:c.2749G>C	XP_016885098.1:p.Glu917Gln
XM_017029610.1:c.2746G>C	XP_016885099.1:p.Glu916Gln
XM_017029611.1:c.2701G>C	XP_016885100.1:p.Glu901Gln
XR_001755700.2:n.3292G>C
XR_938400.1:n.3335G>C