Canonical Allele Identifier: CA413703572

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763867T>A (hg19) ; chrX:g.77508389T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508389T>A , CM000685.2:g.77508389T>A	GRCh38
NC_000023.10:g.76763867T>A , CM000685.1:g.76763867T>A	GRCh37
NC_000023.9:g.76650523T>A	NCBI36
NG_008838.2:g.282833A>T
NG_008838.3:g.282881A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7441A>T MANE Select	ENSP00000362441.4:p.Ser2481Cys
ENST00000675732.1:c.2539A>T	ENSP00000502598.1:p.Ser847Cys
ENST00000373344.9:c.7441A>T	ENSP00000362441.4:p.Ser2481Cys
ENST00000395603.7:c.7327A>T	ENSP00000378967.3:p.Ser2443Cys
ENST00000480283.5:c.*7069A>T	ENSP00000480196.1:n.*7069A>T
ENST00000623706.3:n.5761A>T
NM_000489.4:c.7441A>T	NP_000480.3:p.Ser2481Cys
NM_138270.3:c.7327A>T	NP_612114.2:p.Ser2443Cys
XM_005262153.3:c.7438A>T	XP_005262210.2:p.Ser2480Cys
XM_005262154.3:c.7354A>T	XP_005262211.2:p.Ser2452Cys
XM_005262155.3:c.7324A>T	XP_005262212.2:p.Ser2442Cys
XM_005262156.3:c.7276A>T	XP_005262213.2:p.Ser2426Cys
XM_005262157.3:c.7237A>T	XP_005262214.2:p.Ser2413Cys
XM_006724666.2:c.7324A>T	XP_006724729.1:p.Ser2442Cys
XM_006724667.2:c.7162A>T	XP_006724730.1:p.Ser2388Cys
XR_938400.1:n.9033A>T
NM_000489.5:c.7441A>T	NP_000480.3:p.Ser2481Cys
XM_005262153.5:c.7438A>T	XP_005262210.2:p.Ser2480Cys
XM_005262154.5:c.7354A>T	XP_005262211.2:p.Ser2452Cys
XM_005262155.4:c.7324A>T	XP_005262212.2:p.Ser2442Cys
XM_005262156.4:c.7276A>T	XP_005262213.2:p.Ser2426Cys
XM_005262157.5:c.7237A>T	XP_005262214.2:p.Ser2413Cys
XM_006724666.4:c.7324A>T	XP_006724729.1:p.Ser2442Cys
XM_006724667.3:c.7162A>T	XP_006724730.1:p.Ser2388Cys
XM_017029601.2:c.7351A>T	XP_016885090.1:p.Ser2451Cys
XM_017029602.1:c.7321A>T	XP_016885091.1:p.Ser2441Cys
XM_017029603.1:c.7273A>T	XP_016885092.1:p.Ser2425Cys
XM_017029604.2:c.7240A>T	XP_016885093.1:p.Ser2414Cys
XM_017029605.1:c.7237A>T	XP_016885094.1:p.Ser2413Cys
XM_017029606.2:c.7210A>T	XP_016885095.1:p.Ser2404Cys
XM_017029607.2:c.7207A>T	XP_016885096.1:p.Ser2403Cys
XM_017029608.2:c.7159A>T	XP_016885097.1:p.Ser2387Cys
XM_017029609.1:c.7123A>T	XP_016885098.1:p.Ser2375Cys
XM_017029610.1:c.7120A>T	XP_016885099.1:p.Ser2374Cys
XM_017029611.1:c.7075A>T	XP_016885100.1:p.Ser2359Cys
XR_001755700.2:n.7740A>T
NM_138270.4:c.7327A>T	NP_612114.2:p.Ser2443Cys
NM_000489.6:c.7441A>T MANE Select	NP_000480.3:p.Ser2481Cys
NM_138270.5:c.7327A>T	NP_612114.2:p.Ser2443Cys