Canonical Allele Identifier: CA413703602

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763870T>A (hg19) ; chrX:g.77508392T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508392T>A , CM000685.2:g.77508392T>A	GRCh38
NC_000023.10:g.76763870T>A , CM000685.1:g.76763870T>A	GRCh37
NC_000023.9:g.76650526T>A	NCBI36
NG_008838.2:g.282830A>T
NG_008838.3:g.282878A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7438A>T MANE Select	ENSP00000362441.4:p.Arg2480Ter
ENST00000675732.1:c.2536A>T	ENSP00000502598.1:p.Arg846Ter
ENST00000373344.9:c.7438A>T	ENSP00000362441.4:p.Arg2480Ter
ENST00000395603.7:c.7324A>T	ENSP00000378967.3:p.Arg2442Ter
ENST00000480283.5:c.*7066A>T	ENSP00000480196.1:n.*7066A>T
ENST00000623706.3:n.5758A>T
NM_000489.4:c.7438A>T	NP_000480.3:p.Arg2480Ter
NM_138270.3:c.7324A>T	NP_612114.2:p.Arg2442Ter
XM_005262153.3:c.7435A>T	XP_005262210.2:p.Arg2479Ter
XM_005262154.3:c.7351A>T	XP_005262211.2:p.Arg2451Ter
XM_005262155.3:c.7321A>T	XP_005262212.2:p.Arg2441Ter
XM_005262156.3:c.7273A>T	XP_005262213.2:p.Arg2425Ter
XM_005262157.3:c.7234A>T	XP_005262214.2:p.Arg2412Ter
XM_006724666.2:c.7321A>T	XP_006724729.1:p.Arg2441Ter
XM_006724667.2:c.7159A>T	XP_006724730.1:p.Arg2387Ter
XR_938400.1:n.9030A>T
NM_000489.5:c.7438A>T	NP_000480.3:p.Arg2480Ter
XM_005262153.5:c.7435A>T	XP_005262210.2:p.Arg2479Ter
XM_005262154.5:c.7351A>T	XP_005262211.2:p.Arg2451Ter
XM_005262155.4:c.7321A>T	XP_005262212.2:p.Arg2441Ter
XM_005262156.4:c.7273A>T	XP_005262213.2:p.Arg2425Ter
XM_005262157.5:c.7234A>T	XP_005262214.2:p.Arg2412Ter
XM_006724666.4:c.7321A>T	XP_006724729.1:p.Arg2441Ter
XM_006724667.3:c.7159A>T	XP_006724730.1:p.Arg2387Ter
XM_017029601.2:c.7348A>T	XP_016885090.1:p.Arg2450Ter
XM_017029602.1:c.7318A>T	XP_016885091.1:p.Arg2440Ter
XM_017029603.1:c.7270A>T	XP_016885092.1:p.Arg2424Ter
XM_017029604.2:c.7237A>T	XP_016885093.1:p.Arg2413Ter
XM_017029605.1:c.7234A>T	XP_016885094.1:p.Arg2412Ter
XM_017029606.2:c.7207A>T	XP_016885095.1:p.Arg2403Ter
XM_017029607.2:c.7204A>T	XP_016885096.1:p.Arg2402Ter
XM_017029608.2:c.7156A>T	XP_016885097.1:p.Arg2386Ter
XM_017029609.1:c.7120A>T	XP_016885098.1:p.Arg2374Ter
XM_017029610.1:c.7117A>T	XP_016885099.1:p.Arg2373Ter
XM_017029611.1:c.7072A>T	XP_016885100.1:p.Arg2358Ter
XR_001755700.2:n.7737A>T
NM_138270.4:c.7324A>T	NP_612114.2:p.Arg2442Ter
NM_000489.6:c.7438A>T MANE Select	NP_000480.3:p.Arg2480Ter
NM_138270.5:c.7324A>T	NP_612114.2:p.Arg2442Ter