Canonical Allele Identifier: CA413707373

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776369T>G (hg19) ; chrX:g.77520891T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520891T>G , CM000685.2:g.77520891T>G	GRCh38
NC_000023.10:g.76776369T>G , CM000685.1:g.76776369T>G	GRCh37
NC_000023.9:g.76663025T>G	NCBI36
NG_008838.2:g.270331A>C
NG_008838.3:g.270379A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7097A>C MANE Select	ENSP00000362441.4:p.Glu2366Ala
ENST00000675732.1:c.2195A>C	ENSP00000502598.1:p.Glu732Ala
ENST00000373344.9:c.7097A>C	ENSP00000362441.4:p.Glu2366Ala
ENST00000395603.7:c.6983A>C	ENSP00000378967.3:p.Glu2328Ala
ENST00000480283.5:c.*6725A>C	ENSP00000480196.1:n.*6725A>C
ENST00000623706.3:n.5417A>C
ENST00000624766.1:n.328A>C
NM_000489.4:c.7097A>C	NP_000480.3:p.Glu2366Ala
NM_138270.3:c.6983A>C	NP_612114.2:p.Glu2328Ala
XM_005262153.3:c.7094A>C	XP_005262210.2:p.Glu2365Ala
XM_005262154.3:c.7010A>C	XP_005262211.2:p.Glu2337Ala
XM_005262155.3:c.6980A>C	XP_005262212.2:p.Glu2327Ala
XM_005262156.3:c.6932A>C	XP_005262213.2:p.Glu2311Ala
XM_005262157.3:c.6893A>C	XP_005262214.2:p.Glu2298Ala
XM_006724666.2:c.6980A>C	XP_006724729.1:p.Glu2327Ala
XM_006724667.2:c.6818A>C	XP_006724730.1:p.Glu2273Ala
XR_938400.1:n.8689A>C
NM_000489.5:c.7097A>C	NP_000480.3:p.Glu2366Ala
XM_005262153.5:c.7094A>C	XP_005262210.2:p.Glu2365Ala
XM_005262154.5:c.7010A>C	XP_005262211.2:p.Glu2337Ala
XM_005262155.4:c.6980A>C	XP_005262212.2:p.Glu2327Ala
XM_005262156.4:c.6932A>C	XP_005262213.2:p.Glu2311Ala
XM_005262157.5:c.6893A>C	XP_005262214.2:p.Glu2298Ala
XM_006724666.4:c.6980A>C	XP_006724729.1:p.Glu2327Ala
XM_006724667.3:c.6818A>C	XP_006724730.1:p.Glu2273Ala
XM_017029601.2:c.7007A>C	XP_016885090.1:p.Glu2336Ala
XM_017029602.1:c.6977A>C	XP_016885091.1:p.Glu2326Ala
XM_017029603.1:c.6929A>C	XP_016885092.1:p.Glu2310Ala
XM_017029604.2:c.6896A>C	XP_016885093.1:p.Glu2299Ala
XM_017029605.1:c.6893A>C	XP_016885094.1:p.Glu2298Ala
XM_017029606.2:c.6866A>C	XP_016885095.1:p.Glu2289Ala
XM_017029607.2:c.6863A>C	XP_016885096.1:p.Glu2288Ala
XM_017029608.2:c.6815A>C	XP_016885097.1:p.Glu2272Ala
XM_017029609.1:c.6779A>C	XP_016885098.1:p.Glu2260Ala
XM_017029610.1:c.6776A>C	XP_016885099.1:p.Glu2259Ala
XM_017029611.1:c.6731A>C	XP_016885100.1:p.Glu2244Ala
XR_001755700.2:n.7396A>C
NM_138270.4:c.6983A>C	NP_612114.2:p.Glu2328Ala
NM_000489.6:c.7097A>C MANE Select	NP_000480.3:p.Glu2366Ala
NM_138270.5:c.6983A>C	NP_612114.2:p.Glu2328Ala