Canonical Allele Identifier: CA413707278

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776346A>T (hg19) ; chrX:g.77520868A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520868A>T , CM000685.2:g.77520868A>T	GRCh38
NC_000023.10:g.76776346A>T , CM000685.1:g.76776346A>T	GRCh37
NC_000023.9:g.76663002A>T	NCBI36
NG_008838.2:g.270354T>A
NG_008838.3:g.270402T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7120T>A MANE Select	ENSP00000362441.4:p.Leu2374Ile
ENST00000675732.1:c.2218T>A	ENSP00000502598.1:p.Leu740Ile
ENST00000373344.9:c.7120T>A	ENSP00000362441.4:p.Leu2374Ile
ENST00000395603.7:c.7006T>A	ENSP00000378967.3:p.Leu2336Ile
ENST00000480283.5:c.*6748T>A	ENSP00000480196.1:n.*6748T>A
ENST00000623706.3:n.5440T>A
ENST00000624766.1:n.351T>A
NM_000489.4:c.7120T>A	NP_000480.3:p.Leu2374Ile
NM_138270.3:c.7006T>A	NP_612114.2:p.Leu2336Ile
XM_005262153.3:c.7117T>A	XP_005262210.2:p.Leu2373Ile
XM_005262154.3:c.7033T>A	XP_005262211.2:p.Leu2345Ile
XM_005262155.3:c.7003T>A	XP_005262212.2:p.Leu2335Ile
XM_005262156.3:c.6955T>A	XP_005262213.2:p.Leu2319Ile
XM_005262157.3:c.6916T>A	XP_005262214.2:p.Leu2306Ile
XM_006724666.2:c.7003T>A	XP_006724729.1:p.Leu2335Ile
XM_006724667.2:c.6841T>A	XP_006724730.1:p.Leu2281Ile
XR_938400.1:n.8712T>A
NM_000489.5:c.7120T>A	NP_000480.3:p.Leu2374Ile
XM_005262153.5:c.7117T>A	XP_005262210.2:p.Leu2373Ile
XM_005262154.5:c.7033T>A	XP_005262211.2:p.Leu2345Ile
XM_005262155.4:c.7003T>A	XP_005262212.2:p.Leu2335Ile
XM_005262156.4:c.6955T>A	XP_005262213.2:p.Leu2319Ile
XM_005262157.5:c.6916T>A	XP_005262214.2:p.Leu2306Ile
XM_006724666.4:c.7003T>A	XP_006724729.1:p.Leu2335Ile
XM_006724667.3:c.6841T>A	XP_006724730.1:p.Leu2281Ile
XM_017029601.2:c.7030T>A	XP_016885090.1:p.Leu2344Ile
XM_017029602.1:c.7000T>A	XP_016885091.1:p.Leu2334Ile
XM_017029603.1:c.6952T>A	XP_016885092.1:p.Leu2318Ile
XM_017029604.2:c.6919T>A	XP_016885093.1:p.Leu2307Ile
XM_017029605.1:c.6916T>A	XP_016885094.1:p.Leu2306Ile
XM_017029606.2:c.6889T>A	XP_016885095.1:p.Leu2297Ile
XM_017029607.2:c.6886T>A	XP_016885096.1:p.Leu2296Ile
XM_017029608.2:c.6838T>A	XP_016885097.1:p.Leu2280Ile
XM_017029609.1:c.6802T>A	XP_016885098.1:p.Leu2268Ile
XM_017029610.1:c.6799T>A	XP_016885099.1:p.Leu2267Ile
XM_017029611.1:c.6754T>A	XP_016885100.1:p.Leu2252Ile
XR_001755700.2:n.7419T>A
NM_138270.4:c.7006T>A	NP_612114.2:p.Leu2336Ile
NM_000489.6:c.7120T>A MANE Select	NP_000480.3:p.Leu2374Ile
NM_138270.5:c.7006T>A	NP_612114.2:p.Leu2336Ile