Canonical Allele Identifier: CA10458031

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77682469C>G , CM000685.2:g.77682469C>G	GRCh38
NC_000023.10:g.76937961C>G , CM000685.1:g.76937961C>G	GRCh37
NC_000023.9:g.76824617C>G	NCBI36
NG_008838.2:g.108753G>C
NG_008838.3:g.108801G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.2787G>C MANE Select	NP_000480.3:p.Glu929Asp
ENST00000373344.11:c.2787G>C MANE Select	ENSP00000362441.4:p.Glu929Asp
NM_000489.4:c.2787G>C	NP_000480.3:p.Glu929Asp
NM_000489.5:c.2787G>C	NP_000480.3:p.Glu929Asp
NM_138270.3:c.2673G>C	NP_612114.2:p.Glu891Asp
NM_138270.4:c.2673G>C	NP_612114.2:p.Glu891Asp
NM_138270.5:c.2673G>C	NP_612114.2:p.Glu891Asp
ENST00000373344.9:c.2787G>C	ENSP00000362441.4:p.Glu929Asp
ENST00000395603.7:c.2673G>C	ENSP00000378967.3:p.Glu891Asp
ENST00000480283.5:c.*2415G>C	ENSP00000480196.1:n.*2415G>C
ENST00000624032.3:c.2700G>C	ENSP00000485253.1:p.Glu900Asp
ENST00000624166.3:c.2583G>C	ENSP00000485103.1:p.Glu861Asp
XM_005262153.3:c.2784G>C	XP_005262210.2:p.Glu928Asp
XM_005262153.5:c.2784G>C	XP_005262210.2:p.Glu928Asp
XM_005262154.3:c.2700G>C	XP_005262211.2:p.Glu900Asp
XM_005262154.5:c.2700G>C	XP_005262211.2:p.Glu900Asp
XM_005262155.3:c.2670G>C	XP_005262212.2:p.Glu890Asp
XM_005262155.4:c.2670G>C	XP_005262212.2:p.Glu890Asp
XM_005262156.3:c.2622G>C	XP_005262213.2:p.Glu874Asp
XM_005262156.4:c.2622G>C	XP_005262213.2:p.Glu874Asp
XM_005262157.3:c.2583G>C	XP_005262214.2:p.Glu861Asp
XM_005262157.5:c.2583G>C	XP_005262214.2:p.Glu861Asp
XM_006724666.2:c.2670G>C	XP_006724729.1:p.Glu890Asp
XM_006724666.4:c.2670G>C	XP_006724729.1:p.Glu890Asp
XM_006724667.2:c.2508G>C	XP_006724730.1:p.Glu836Asp
XM_006724667.3:c.2508G>C	XP_006724730.1:p.Glu836Asp
XM_006724668.2:c.2787G>C	XP_006724731.1:p.Glu929Asp
XM_006724668.3:c.2787G>C	XP_006724731.1:p.Glu929Asp
XM_017029601.2:c.2697G>C	XP_016885090.1:p.Glu899Asp
XM_017029602.1:c.2667G>C	XP_016885091.1:p.Glu889Asp
XM_017029603.1:c.2619G>C	XP_016885092.1:p.Glu873Asp
XM_017029604.2:c.2586G>C	XP_016885093.1:p.Glu862Asp
XM_017029605.1:c.2583G>C	XP_016885094.1:p.Glu861Asp
XM_017029606.2:c.2556G>C	XP_016885095.1:p.Glu852Asp
XM_017029607.2:c.2553G>C	XP_016885096.1:p.Glu851Asp
XM_017029608.2:c.2505G>C	XP_016885097.1:p.Glu835Asp
XM_017029609.1:c.2469G>C	XP_016885098.1:p.Glu823Asp
XM_017029610.1:c.2466G>C	XP_016885099.1:p.Glu822Asp
XM_017029611.1:c.2421G>C	XP_016885100.1:p.Glu807Asp
XR_001755700.2:n.3012G>C
XR_938400.1:n.3055G>C