Canonical Allele Identifier: CA413704248

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763962G>T (hg19) ; chrX:g.77508484G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508484G>T , CM000685.2:g.77508484G>T	GRCh38
NC_000023.10:g.76763962G>T , CM000685.1:g.76763962G>T	GRCh37
NC_000023.9:g.76650618G>T	NCBI36
NG_008838.2:g.282738C>A
NG_008838.3:g.282786C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7346C>A MANE Select	ENSP00000362441.4:p.Ser2449Tyr
ENST00000675732.1:c.2444C>A	ENSP00000502598.1:p.Ser815Tyr
ENST00000373344.9:c.7346C>A	ENSP00000362441.4:p.Ser2449Tyr
ENST00000395603.7:c.7232C>A	ENSP00000378967.3:p.Ser2411Tyr
ENST00000480283.5:c.*6974C>A	ENSP00000480196.1:n.*6974C>A
ENST00000623706.3:n.5666C>A
ENST00000624766.1:n.577C>A
NM_000489.4:c.7346C>A	NP_000480.3:p.Ser2449Tyr
NM_138270.3:c.7232C>A	NP_612114.2:p.Ser2411Tyr
XM_005262153.3:c.7343C>A	XP_005262210.2:p.Ser2448Tyr
XM_005262154.3:c.7259C>A	XP_005262211.2:p.Ser2420Tyr
XM_005262155.3:c.7229C>A	XP_005262212.2:p.Ser2410Tyr
XM_005262156.3:c.7181C>A	XP_005262213.2:p.Ser2394Tyr
XM_005262157.3:c.7142C>A	XP_005262214.2:p.Ser2381Tyr
XM_006724666.2:c.7229C>A	XP_006724729.1:p.Ser2410Tyr
XM_006724667.2:c.7067C>A	XP_006724730.1:p.Ser2356Tyr
XR_938400.1:n.8938C>A
NM_000489.5:c.7346C>A	NP_000480.3:p.Ser2449Tyr
XM_005262153.5:c.7343C>A	XP_005262210.2:p.Ser2448Tyr
XM_005262154.5:c.7259C>A	XP_005262211.2:p.Ser2420Tyr
XM_005262155.4:c.7229C>A	XP_005262212.2:p.Ser2410Tyr
XM_005262156.4:c.7181C>A	XP_005262213.2:p.Ser2394Tyr
XM_005262157.5:c.7142C>A	XP_005262214.2:p.Ser2381Tyr
XM_006724666.4:c.7229C>A	XP_006724729.1:p.Ser2410Tyr
XM_006724667.3:c.7067C>A	XP_006724730.1:p.Ser2356Tyr
XM_017029601.2:c.7256C>A	XP_016885090.1:p.Ser2419Tyr
XM_017029602.1:c.7226C>A	XP_016885091.1:p.Ser2409Tyr
XM_017029603.1:c.7178C>A	XP_016885092.1:p.Ser2393Tyr
XM_017029604.2:c.7145C>A	XP_016885093.1:p.Ser2382Tyr
XM_017029605.1:c.7142C>A	XP_016885094.1:p.Ser2381Tyr
XM_017029606.2:c.7115C>A	XP_016885095.1:p.Ser2372Tyr
XM_017029607.2:c.7112C>A	XP_016885096.1:p.Ser2371Tyr
XM_017029608.2:c.7064C>A	XP_016885097.1:p.Ser2355Tyr
XM_017029609.1:c.7028C>A	XP_016885098.1:p.Ser2343Tyr
XM_017029610.1:c.7025C>A	XP_016885099.1:p.Ser2342Tyr
XM_017029611.1:c.6980C>A	XP_016885100.1:p.Ser2327Tyr
XR_001755700.2:n.7645C>A
NM_138270.4:c.7232C>A	NP_612114.2:p.Ser2411Tyr
NM_000489.6:c.7346C>A MANE Select	NP_000480.3:p.Ser2449Tyr
NM_138270.5:c.7232C>A	NP_612114.2:p.Ser2411Tyr