Canonical Allele Identifier: CA413704667

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76764014T>C (hg19) ; chrX:g.77508536T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508536T>C , CM000685.2:g.77508536T>C	GRCh38
NC_000023.10:g.76764014T>C , CM000685.1:g.76764014T>C	GRCh37
NC_000023.9:g.76650670T>C	NCBI36
NG_008838.2:g.282686A>G
NG_008838.3:g.282734A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7294A>G MANE Select	ENSP00000362441.4:p.Thr2432Ala
ENST00000675732.1:c.2392A>G	ENSP00000502598.1:p.Thr798Ala
ENST00000373344.9:c.7294A>G	ENSP00000362441.4:p.Thr2432Ala
ENST00000395603.7:c.7180A>G	ENSP00000378967.3:p.Thr2394Ala
ENST00000480283.5:c.*6922A>G	ENSP00000480196.1:n.*6922A>G
ENST00000623706.3:n.5614A>G
ENST00000624766.1:n.525A>G
NM_000489.4:c.7294A>G	NP_000480.3:p.Thr2432Ala
NM_138270.3:c.7180A>G	NP_612114.2:p.Thr2394Ala
XM_005262153.3:c.7291A>G	XP_005262210.2:p.Thr2431Ala
XM_005262154.3:c.7207A>G	XP_005262211.2:p.Thr2403Ala
XM_005262155.3:c.7177A>G	XP_005262212.2:p.Thr2393Ala
XM_005262156.3:c.7129A>G	XP_005262213.2:p.Thr2377Ala
XM_005262157.3:c.7090A>G	XP_005262214.2:p.Thr2364Ala
XM_006724666.2:c.7177A>G	XP_006724729.1:p.Thr2393Ala
XM_006724667.2:c.7015A>G	XP_006724730.1:p.Thr2339Ala
XR_938400.1:n.8886A>G
NM_000489.5:c.7294A>G	NP_000480.3:p.Thr2432Ala
XM_005262153.5:c.7291A>G	XP_005262210.2:p.Thr2431Ala
XM_005262154.5:c.7207A>G	XP_005262211.2:p.Thr2403Ala
XM_005262155.4:c.7177A>G	XP_005262212.2:p.Thr2393Ala
XM_005262156.4:c.7129A>G	XP_005262213.2:p.Thr2377Ala
XM_005262157.5:c.7090A>G	XP_005262214.2:p.Thr2364Ala
XM_006724666.4:c.7177A>G	XP_006724729.1:p.Thr2393Ala
XM_006724667.3:c.7015A>G	XP_006724730.1:p.Thr2339Ala
XM_017029601.2:c.7204A>G	XP_016885090.1:p.Thr2402Ala
XM_017029602.1:c.7174A>G	XP_016885091.1:p.Thr2392Ala
XM_017029603.1:c.7126A>G	XP_016885092.1:p.Thr2376Ala
XM_017029604.2:c.7093A>G	XP_016885093.1:p.Thr2365Ala
XM_017029605.1:c.7090A>G	XP_016885094.1:p.Thr2364Ala
XM_017029606.2:c.7063A>G	XP_016885095.1:p.Thr2355Ala
XM_017029607.2:c.7060A>G	XP_016885096.1:p.Thr2354Ala
XM_017029608.2:c.7012A>G	XP_016885097.1:p.Thr2338Ala
XM_017029609.1:c.6976A>G	XP_016885098.1:p.Thr2326Ala
XM_017029610.1:c.6973A>G	XP_016885099.1:p.Thr2325Ala
XM_017029611.1:c.6928A>G	XP_016885100.1:p.Thr2310Ala
XR_001755700.2:n.7593A>G
NM_138270.4:c.7180A>G	NP_612114.2:p.Thr2394Ala
NM_000489.6:c.7294A>G MANE Select	NP_000480.3:p.Thr2432Ala
NM_138270.5:c.7180A>G	NP_612114.2:p.Thr2394Ala