Canonical Allele Identifier: CA413704057

Gene: ATRX

Linked Data

• dbSNP Id: rs2147648049
• COSMIC: COSM5930384 ; COSM5930385
• MyVariant Identifiers: chrX:g.76763936C>T (hg19) ; chrX:g.77508458C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508458C>T , CM000685.2:g.77508458C>T	GRCh38
NC_000023.10:g.76763936C>T , CM000685.1:g.76763936C>T	GRCh37
NC_000023.9:g.76650592C>T	NCBI36
NG_008838.2:g.282764G>A
NG_008838.3:g.282812G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7372G>A MANE Select	ENSP00000362441.4:p.Gly2458Arg
ENST00000675732.1:c.2470G>A	ENSP00000502598.1:p.Gly824Arg
ENST00000373344.9:c.7372G>A	ENSP00000362441.4:p.Gly2458Arg
ENST00000395603.7:c.7258G>A	ENSP00000378967.3:p.Gly2420Arg
ENST00000480283.5:c.*7000G>A	ENSP00000480196.1:n.*7000G>A
ENST00000623706.3:n.5692G>A
NM_000489.4:c.7372G>A	NP_000480.3:p.Gly2458Arg
NM_138270.3:c.7258G>A	NP_612114.2:p.Gly2420Arg
XM_005262153.3:c.7369G>A	XP_005262210.2:p.Gly2457Arg
XM_005262154.3:c.7285G>A	XP_005262211.2:p.Gly2429Arg
XM_005262155.3:c.7255G>A	XP_005262212.2:p.Gly2419Arg
XM_005262156.3:c.7207G>A	XP_005262213.2:p.Gly2403Arg
XM_005262157.3:c.7168G>A	XP_005262214.2:p.Gly2390Arg
XM_006724666.2:c.7255G>A	XP_006724729.1:p.Gly2419Arg
XM_006724667.2:c.7093G>A	XP_006724730.1:p.Gly2365Arg
XR_938400.1:n.8964G>A
NM_000489.5:c.7372G>A	NP_000480.3:p.Gly2458Arg
XM_005262153.5:c.7369G>A	XP_005262210.2:p.Gly2457Arg
XM_005262154.5:c.7285G>A	XP_005262211.2:p.Gly2429Arg
XM_005262155.4:c.7255G>A	XP_005262212.2:p.Gly2419Arg
XM_005262156.4:c.7207G>A	XP_005262213.2:p.Gly2403Arg
XM_005262157.5:c.7168G>A	XP_005262214.2:p.Gly2390Arg
XM_006724666.4:c.7255G>A	XP_006724729.1:p.Gly2419Arg
XM_006724667.3:c.7093G>A	XP_006724730.1:p.Gly2365Arg
XM_017029601.2:c.7282G>A	XP_016885090.1:p.Gly2428Arg
XM_017029602.1:c.7252G>A	XP_016885091.1:p.Gly2418Arg
XM_017029603.1:c.7204G>A	XP_016885092.1:p.Gly2402Arg
XM_017029604.2:c.7171G>A	XP_016885093.1:p.Gly2391Arg
XM_017029605.1:c.7168G>A	XP_016885094.1:p.Gly2390Arg
XM_017029606.2:c.7141G>A	XP_016885095.1:p.Gly2381Arg
XM_017029607.2:c.7138G>A	XP_016885096.1:p.Gly2380Arg
XM_017029608.2:c.7090G>A	XP_016885097.1:p.Gly2364Arg
XM_017029609.1:c.7054G>A	XP_016885098.1:p.Gly2352Arg
XM_017029610.1:c.7051G>A	XP_016885099.1:p.Gly2351Arg
XM_017029611.1:c.7006G>A	XP_016885100.1:p.Gly2336Arg
XR_001755700.2:n.7671G>A
NM_138270.4:c.7258G>A	NP_612114.2:p.Gly2420Arg
NM_000489.6:c.7372G>A MANE Select	NP_000480.3:p.Gly2458Arg
NM_138270.5:c.7258G>A	NP_612114.2:p.Gly2420Arg