Canonical Allele Identifier: CA413703586

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763868T>G (hg19) ; chrX:g.77508390T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508390T>G , CM000685.2:g.77508390T>G	GRCh38
NC_000023.10:g.76763868T>G , CM000685.1:g.76763868T>G	GRCh37
NC_000023.9:g.76650524T>G	NCBI36
NG_008838.2:g.282832A>C
NG_008838.3:g.282880A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7440A>C MANE Select	ENSP00000362441.4:p.Arg2480Ser
ENST00000675732.1:c.2538A>C	ENSP00000502598.1:p.Arg846Ser
ENST00000373344.9:c.7440A>C	ENSP00000362441.4:p.Arg2480Ser
ENST00000395603.7:c.7326A>C	ENSP00000378967.3:p.Arg2442Ser
ENST00000480283.5:c.*7068A>C	ENSP00000480196.1:n.*7068A>C
ENST00000623706.3:n.5760A>C
NM_000489.4:c.7440A>C	NP_000480.3:p.Arg2480Ser
NM_138270.3:c.7326A>C	NP_612114.2:p.Arg2442Ser
XM_005262153.3:c.7437A>C	XP_005262210.2:p.Arg2479Ser
XM_005262154.3:c.7353A>C	XP_005262211.2:p.Arg2451Ser
XM_005262155.3:c.7323A>C	XP_005262212.2:p.Arg2441Ser
XM_005262156.3:c.7275A>C	XP_005262213.2:p.Arg2425Ser
XM_005262157.3:c.7236A>C	XP_005262214.2:p.Arg2412Ser
XM_006724666.2:c.7323A>C	XP_006724729.1:p.Arg2441Ser
XM_006724667.2:c.7161A>C	XP_006724730.1:p.Arg2387Ser
XR_938400.1:n.9032A>C
NM_000489.5:c.7440A>C	NP_000480.3:p.Arg2480Ser
XM_005262153.5:c.7437A>C	XP_005262210.2:p.Arg2479Ser
XM_005262154.5:c.7353A>C	XP_005262211.2:p.Arg2451Ser
XM_005262155.4:c.7323A>C	XP_005262212.2:p.Arg2441Ser
XM_005262156.4:c.7275A>C	XP_005262213.2:p.Arg2425Ser
XM_005262157.5:c.7236A>C	XP_005262214.2:p.Arg2412Ser
XM_006724666.4:c.7323A>C	XP_006724729.1:p.Arg2441Ser
XM_006724667.3:c.7161A>C	XP_006724730.1:p.Arg2387Ser
XM_017029601.2:c.7350A>C	XP_016885090.1:p.Arg2450Ser
XM_017029602.1:c.7320A>C	XP_016885091.1:p.Arg2440Ser
XM_017029603.1:c.7272A>C	XP_016885092.1:p.Arg2424Ser
XM_017029604.2:c.7239A>C	XP_016885093.1:p.Arg2413Ser
XM_017029605.1:c.7236A>C	XP_016885094.1:p.Arg2412Ser
XM_017029606.2:c.7209A>C	XP_016885095.1:p.Arg2403Ser
XM_017029607.2:c.7206A>C	XP_016885096.1:p.Arg2402Ser
XM_017029608.2:c.7158A>C	XP_016885097.1:p.Arg2386Ser
XM_017029609.1:c.7122A>C	XP_016885098.1:p.Arg2374Ser
XM_017029610.1:c.7119A>C	XP_016885099.1:p.Arg2373Ser
XM_017029611.1:c.7074A>C	XP_016885100.1:p.Arg2358Ser
XR_001755700.2:n.7739A>C
NM_138270.4:c.7326A>C	NP_612114.2:p.Arg2442Ser
NM_000489.6:c.7440A>C MANE Select	NP_000480.3:p.Arg2480Ser
NM_138270.5:c.7326A>C	NP_612114.2:p.Arg2442Ser