Canonical Allele Identifier: CA413704664

Gene: ATRX

Linked Data

• dbSNP Id: rs2147650788
• MyVariant Identifiers: chrX:g.76764014T>A (hg19) ; chrX:g.77508536T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7294A>T MANE Select	ENSP00000362441.4:p.Thr2432Ser
ENST00000675732.1:c.2392A>T	ENSP00000502598.1:p.Thr798Ser
ENST00000373344.9:c.7294A>T	ENSP00000362441.4:p.Thr2432Ser
ENST00000395603.7:c.7180A>T	ENSP00000378967.3:p.Thr2394Ser
ENST00000480283.5:c.*6922A>T	ENSP00000480196.1:n.*6922A>T
ENST00000623706.3:n.5614A>T
ENST00000624766.1:n.525A>T
NM_000489.4:c.7294A>T	NP_000480.3:p.Thr2432Ser
NM_138270.3:c.7180A>T	NP_612114.2:p.Thr2394Ser
XM_005262153.3:c.7291A>T	XP_005262210.2:p.Thr2431Ser
XM_005262154.3:c.7207A>T	XP_005262211.2:p.Thr2403Ser
XM_005262155.3:c.7177A>T	XP_005262212.2:p.Thr2393Ser
XM_005262156.3:c.7129A>T	XP_005262213.2:p.Thr2377Ser
XM_005262157.3:c.7090A>T	XP_005262214.2:p.Thr2364Ser
XM_006724666.2:c.7177A>T	XP_006724729.1:p.Thr2393Ser
XM_006724667.2:c.7015A>T	XP_006724730.1:p.Thr2339Ser
XR_938400.1:n.8886A>T
NM_000489.5:c.7294A>T	NP_000480.3:p.Thr2432Ser
XM_005262153.5:c.7291A>T	XP_005262210.2:p.Thr2431Ser
XM_005262154.5:c.7207A>T	XP_005262211.2:p.Thr2403Ser
XM_005262155.4:c.7177A>T	XP_005262212.2:p.Thr2393Ser
XM_005262156.4:c.7129A>T	XP_005262213.2:p.Thr2377Ser
XM_005262157.5:c.7090A>T	XP_005262214.2:p.Thr2364Ser
XM_006724666.4:c.7177A>T	XP_006724729.1:p.Thr2393Ser
XM_006724667.3:c.7015A>T	XP_006724730.1:p.Thr2339Ser
XM_017029601.2:c.7204A>T	XP_016885090.1:p.Thr2402Ser
XM_017029602.1:c.7174A>T	XP_016885091.1:p.Thr2392Ser
XM_017029603.1:c.7126A>T	XP_016885092.1:p.Thr2376Ser
XM_017029604.2:c.7093A>T	XP_016885093.1:p.Thr2365Ser
XM_017029605.1:c.7090A>T	XP_016885094.1:p.Thr2364Ser
XM_017029606.2:c.7063A>T	XP_016885095.1:p.Thr2355Ser
XM_017029607.2:c.7060A>T	XP_016885096.1:p.Thr2354Ser
XM_017029608.2:c.7012A>T	XP_016885097.1:p.Thr2338Ser
XM_017029609.1:c.6976A>T	XP_016885098.1:p.Thr2326Ser
XM_017029610.1:c.6973A>T	XP_016885099.1:p.Thr2325Ser
XM_017029611.1:c.6928A>T	XP_016885100.1:p.Thr2310Ser
XR_001755700.2:n.7593A>T
NM_138270.4:c.7180A>T	NP_612114.2:p.Thr2394Ser
NM_000489.6:c.7294A>T MANE Select	NP_000480.3:p.Thr2432Ser
NM_138270.5:c.7180A>T	NP_612114.2:p.Thr2394Ser