Canonical Allele Identifier: CA331560034

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1337653
• ClinVar RCV Id: RCV001820667
• dbSNP Id: rs782540364
• MyVariant Identifiers: chrX:g.76763912C>A (hg19) ; chrX:g.77508434C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508434C>A , CM000685.2:g.77508434C>A	GRCh38
NC_000023.10:g.76763912C>A , CM000685.1:g.76763912C>A	GRCh37
NC_000023.9:g.76650568C>A	NCBI36
NG_008838.2:g.282788G>T
NG_008838.3:g.282836G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7396G>T MANE Select	ENSP00000362441.4:p.Gly2466Cys
ENST00000675732.1:c.2494G>T	ENSP00000502598.1:p.Gly832Cys
ENST00000373344.9:c.7396G>T	ENSP00000362441.4:p.Gly2466Cys
ENST00000395603.7:c.7282G>T	ENSP00000378967.3:p.Gly2428Cys
ENST00000480283.5:c.*7024G>T	ENSP00000480196.1:n.*7024G>T
ENST00000623706.3:n.5716G>T
NM_000489.4:c.7396G>T	NP_000480.3:p.Gly2466Cys
NM_138270.3:c.7282G>T	NP_612114.2:p.Gly2428Cys
XM_005262153.3:c.7393G>T	XP_005262210.2:p.Gly2465Cys
XM_005262154.3:c.7309G>T	XP_005262211.2:p.Gly2437Cys
XM_005262155.3:c.7279G>T	XP_005262212.2:p.Gly2427Cys
XM_005262156.3:c.7231G>T	XP_005262213.2:p.Gly2411Cys
XM_005262157.3:c.7192G>T	XP_005262214.2:p.Gly2398Cys
XM_006724666.2:c.7279G>T	XP_006724729.1:p.Gly2427Cys
XM_006724667.2:c.7117G>T	XP_006724730.1:p.Gly2373Cys
XR_938400.1:n.8988G>T
NM_000489.5:c.7396G>T	NP_000480.3:p.Gly2466Cys
XM_005262153.5:c.7393G>T	XP_005262210.2:p.Gly2465Cys
XM_005262154.5:c.7309G>T	XP_005262211.2:p.Gly2437Cys
XM_005262155.4:c.7279G>T	XP_005262212.2:p.Gly2427Cys
XM_005262156.4:c.7231G>T	XP_005262213.2:p.Gly2411Cys
XM_005262157.5:c.7192G>T	XP_005262214.2:p.Gly2398Cys
XM_006724666.4:c.7279G>T	XP_006724729.1:p.Gly2427Cys
XM_006724667.3:c.7117G>T	XP_006724730.1:p.Gly2373Cys
XM_017029601.2:c.7306G>T	XP_016885090.1:p.Gly2436Cys
XM_017029602.1:c.7276G>T	XP_016885091.1:p.Gly2426Cys
XM_017029603.1:c.7228G>T	XP_016885092.1:p.Gly2410Cys
XM_017029604.2:c.7195G>T	XP_016885093.1:p.Gly2399Cys
XM_017029605.1:c.7192G>T	XP_016885094.1:p.Gly2398Cys
XM_017029606.2:c.7165G>T	XP_016885095.1:p.Gly2389Cys
XM_017029607.2:c.7162G>T	XP_016885096.1:p.Gly2388Cys
XM_017029608.2:c.7114G>T	XP_016885097.1:p.Gly2372Cys
XM_017029609.1:c.7078G>T	XP_016885098.1:p.Gly2360Cys
XM_017029610.1:c.7075G>T	XP_016885099.1:p.Gly2359Cys
XM_017029611.1:c.7030G>T	XP_016885100.1:p.Gly2344Cys
XR_001755700.2:n.7695G>T
NM_138270.4:c.7282G>T	NP_612114.2:p.Gly2428Cys
NM_000489.6:c.7396G>T MANE Select	NP_000480.3:p.Gly2466Cys
NM_138270.5:c.7282G>T	NP_612114.2:p.Gly2428Cys