Canonical Allele Identifier: CA413703456

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763848G>T (hg19) ; chrX:g.77508370G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508370G>T , CM000685.2:g.77508370G>T	GRCh38
NC_000023.10:g.76763848G>T , CM000685.1:g.76763848G>T	GRCh37
NC_000023.9:g.76650504G>T	NCBI36
NG_008838.2:g.282852C>A
NG_008838.3:g.282900C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7460C>A MANE Select	ENSP00000362441.4:p.Ser2487Tyr
ENST00000675732.1:c.2558C>A	ENSP00000502598.1:p.Ser853Tyr
ENST00000373344.9:c.7460C>A	ENSP00000362441.4:p.Ser2487Tyr
ENST00000395603.7:c.7346C>A	ENSP00000378967.3:p.Ser2449Tyr
ENST00000480283.5:c.*7088C>A	ENSP00000480196.1:n.*7088C>A
ENST00000623706.3:n.5780C>A
NM_000489.4:c.7460C>A	NP_000480.3:p.Ser2487Tyr
NM_138270.3:c.7346C>A	NP_612114.2:p.Ser2449Tyr
XM_005262153.3:c.7457C>A	XP_005262210.2:p.Ser2486Tyr
XM_005262154.3:c.7373C>A	XP_005262211.2:p.Ser2458Tyr
XM_005262155.3:c.7343C>A	XP_005262212.2:p.Ser2448Tyr
XM_005262156.3:c.7295C>A	XP_005262213.2:p.Ser2432Tyr
XM_005262157.3:c.7256C>A	XP_005262214.2:p.Ser2419Tyr
XM_006724666.2:c.7343C>A	XP_006724729.1:p.Ser2448Tyr
XM_006724667.2:c.7181C>A	XP_006724730.1:p.Ser2394Tyr
XR_938400.1:n.9052C>A
NM_000489.5:c.7460C>A	NP_000480.3:p.Ser2487Tyr
XM_005262153.5:c.7457C>A	XP_005262210.2:p.Ser2486Tyr
XM_005262154.5:c.7373C>A	XP_005262211.2:p.Ser2458Tyr
XM_005262155.4:c.7343C>A	XP_005262212.2:p.Ser2448Tyr
XM_005262156.4:c.7295C>A	XP_005262213.2:p.Ser2432Tyr
XM_005262157.5:c.7256C>A	XP_005262214.2:p.Ser2419Tyr
XM_006724666.4:c.7343C>A	XP_006724729.1:p.Ser2448Tyr
XM_006724667.3:c.7181C>A	XP_006724730.1:p.Ser2394Tyr
XM_017029601.2:c.7370C>A	XP_016885090.1:p.Ser2457Tyr
XM_017029602.1:c.7340C>A	XP_016885091.1:p.Ser2447Tyr
XM_017029603.1:c.7292C>A	XP_016885092.1:p.Ser2431Tyr
XM_017029604.2:c.7259C>A	XP_016885093.1:p.Ser2420Tyr
XM_017029605.1:c.7256C>A	XP_016885094.1:p.Ser2419Tyr
XM_017029606.2:c.7229C>A	XP_016885095.1:p.Ser2410Tyr
XM_017029607.2:c.7226C>A	XP_016885096.1:p.Ser2409Tyr
XM_017029608.2:c.7178C>A	XP_016885097.1:p.Ser2393Tyr
XM_017029609.1:c.7142C>A	XP_016885098.1:p.Ser2381Tyr
XM_017029610.1:c.7139C>A	XP_016885099.1:p.Ser2380Tyr
XM_017029611.1:c.7094C>A	XP_016885100.1:p.Ser2365Tyr
XR_001755700.2:n.7759C>A
NM_138270.4:c.7346C>A	NP_612114.2:p.Ser2449Tyr
NM_000489.6:c.7460C>A MANE Select	NP_000480.3:p.Ser2487Tyr
NM_138270.5:c.7346C>A	NP_612114.2:p.Ser2449Tyr