Canonical Allele Identifier: CA413707084

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776303T>C (hg19) ; chrX:g.77520825T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520825T>C , CM000685.2:g.77520825T>C	GRCh38
NC_000023.10:g.76776303T>C , CM000685.1:g.76776303T>C	GRCh37
NC_000023.9:g.76662959T>C	NCBI36
NG_008838.2:g.270397A>G
NG_008838.3:g.270445A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7163A>G MANE Select	ENSP00000362441.4:p.Glu2388Gly
ENST00000675732.1:c.2261A>G	ENSP00000502598.1:p.Glu754Gly
ENST00000373344.9:c.7163A>G	ENSP00000362441.4:p.Glu2388Gly
ENST00000395603.7:c.7049A>G	ENSP00000378967.3:p.Glu2350Gly
ENST00000480283.5:c.*6791A>G	ENSP00000480196.1:n.*6791A>G
ENST00000623706.3:n.5483A>G
ENST00000624766.1:n.394A>G
NM_000489.4:c.7163A>G	NP_000480.3:p.Glu2388Gly
NM_138270.3:c.7049A>G	NP_612114.2:p.Glu2350Gly
XM_005262153.3:c.7160A>G	XP_005262210.2:p.Glu2387Gly
XM_005262154.3:c.7076A>G	XP_005262211.2:p.Glu2359Gly
XM_005262155.3:c.7046A>G	XP_005262212.2:p.Glu2349Gly
XM_005262156.3:c.6998A>G	XP_005262213.2:p.Glu2333Gly
XM_005262157.3:c.6959A>G	XP_005262214.2:p.Glu2320Gly
XM_006724666.2:c.7046A>G	XP_006724729.1:p.Glu2349Gly
XM_006724667.2:c.6884A>G	XP_006724730.1:p.Glu2295Gly
XR_938400.1:n.8755A>G
NM_000489.5:c.7163A>G	NP_000480.3:p.Glu2388Gly
XM_005262153.5:c.7160A>G	XP_005262210.2:p.Glu2387Gly
XM_005262154.5:c.7076A>G	XP_005262211.2:p.Glu2359Gly
XM_005262155.4:c.7046A>G	XP_005262212.2:p.Glu2349Gly
XM_005262156.4:c.6998A>G	XP_005262213.2:p.Glu2333Gly
XM_005262157.5:c.6959A>G	XP_005262214.2:p.Glu2320Gly
XM_006724666.4:c.7046A>G	XP_006724729.1:p.Glu2349Gly
XM_006724667.3:c.6884A>G	XP_006724730.1:p.Glu2295Gly
XM_017029601.2:c.7073A>G	XP_016885090.1:p.Glu2358Gly
XM_017029602.1:c.7043A>G	XP_016885091.1:p.Glu2348Gly
XM_017029603.1:c.6995A>G	XP_016885092.1:p.Glu2332Gly
XM_017029604.2:c.6962A>G	XP_016885093.1:p.Glu2321Gly
XM_017029605.1:c.6959A>G	XP_016885094.1:p.Glu2320Gly
XM_017029606.2:c.6932A>G	XP_016885095.1:p.Glu2311Gly
XM_017029607.2:c.6929A>G	XP_016885096.1:p.Glu2310Gly
XM_017029608.2:c.6881A>G	XP_016885097.1:p.Glu2294Gly
XM_017029609.1:c.6845A>G	XP_016885098.1:p.Glu2282Gly
XM_017029610.1:c.6842A>G	XP_016885099.1:p.Glu2281Gly
XM_017029611.1:c.6797A>G	XP_016885100.1:p.Glu2266Gly
XR_001755700.2:n.7462A>G
NM_138270.4:c.7049A>G	NP_612114.2:p.Glu2350Gly
NM_000489.6:c.7163A>G MANE Select	NP_000480.3:p.Glu2388Gly
NM_138270.5:c.7049A>G	NP_612114.2:p.Glu2350Gly