Canonical Allele Identifier: CA10458094

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77682896C>G , CM000685.2:g.77682896C>G	GRCh38
NC_000023.10:g.76938388C>G , CM000685.1:g.76938388C>G	GRCh37
NC_000023.9:g.76825044C>G	NCBI36
NG_008838.2:g.108326G>C
NG_008838.3:g.108374G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.2360G>C MANE Select	NP_000480.3:p.Gly787Ala
ENST00000373344.11:c.2360G>C MANE Select	ENSP00000362441.4:p.Gly787Ala
NM_000489.4:c.2360G>C	NP_000480.3:p.Gly787Ala
NM_000489.5:c.2360G>C	NP_000480.3:p.Gly787Ala
NM_138270.3:c.2246G>C	NP_612114.2:p.Gly749Ala
NM_138270.4:c.2246G>C	NP_612114.2:p.Gly749Ala
NM_138270.5:c.2246G>C	NP_612114.2:p.Gly749Ala
ENST00000373344.9:c.2360G>C	ENSP00000362441.4:p.Gly787Ala
ENST00000395603.7:c.2246G>C	ENSP00000378967.3:p.Gly749Ala
ENST00000480283.5:c.*1988G>C	ENSP00000480196.1:n.*1988G>C
ENST00000624032.3:c.2273G>C	ENSP00000485253.1:p.Gly758Ala
ENST00000624166.3:c.2156G>C	ENSP00000485103.1:p.Gly719Ala
XM_005262153.3:c.2357G>C	XP_005262210.2:p.Gly786Ala
XM_005262153.5:c.2357G>C	XP_005262210.2:p.Gly786Ala
XM_005262154.3:c.2273G>C	XP_005262211.2:p.Gly758Ala
XM_005262154.5:c.2273G>C	XP_005262211.2:p.Gly758Ala
XM_005262155.3:c.2243G>C	XP_005262212.2:p.Gly748Ala
XM_005262155.4:c.2243G>C	XP_005262212.2:p.Gly748Ala
XM_005262156.3:c.2195G>C	XP_005262213.2:p.Gly732Ala
XM_005262156.4:c.2195G>C	XP_005262213.2:p.Gly732Ala
XM_005262157.3:c.2156G>C	XP_005262214.2:p.Gly719Ala
XM_005262157.5:c.2156G>C	XP_005262214.2:p.Gly719Ala
XM_006724666.2:c.2243G>C	XP_006724729.1:p.Gly748Ala
XM_006724666.4:c.2243G>C	XP_006724729.1:p.Gly748Ala
XM_006724667.2:c.2081G>C	XP_006724730.1:p.Gly694Ala
XM_006724667.3:c.2081G>C	XP_006724730.1:p.Gly694Ala
XM_006724668.2:c.2360G>C	XP_006724731.1:p.Gly787Ala
XM_006724668.3:c.2360G>C	XP_006724731.1:p.Gly787Ala
XM_017029601.2:c.2270G>C	XP_016885090.1:p.Gly757Ala
XM_017029602.1:c.2240G>C	XP_016885091.1:p.Gly747Ala
XM_017029603.1:c.2192G>C	XP_016885092.1:p.Gly731Ala
XM_017029604.2:c.2159G>C	XP_016885093.1:p.Gly720Ala
XM_017029605.1:c.2156G>C	XP_016885094.1:p.Gly719Ala
XM_017029606.2:c.2129G>C	XP_016885095.1:p.Gly710Ala
XM_017029607.2:c.2126G>C	XP_016885096.1:p.Gly709Ala
XM_017029608.2:c.2078G>C	XP_016885097.1:p.Gly693Ala
XM_017029609.1:c.2042G>C	XP_016885098.1:p.Gly681Ala
XM_017029610.1:c.2039G>C	XP_016885099.1:p.Gly680Ala
XM_017029611.1:c.1994G>C	XP_016885100.1:p.Gly665Ala
XR_001755700.2:n.2585G>C
XR_938400.1:n.2628G>C