Canonical Allele Identifier: CA413703809

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763894A>T (hg19) ; chrX:g.77508416A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508416A>T , CM000685.2:g.77508416A>T	GRCh38
NC_000023.10:g.76763894A>T , CM000685.1:g.76763894A>T	GRCh37
NC_000023.9:g.76650550A>T	NCBI36
NG_008838.2:g.282806T>A
NG_008838.3:g.282854T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7414T>A MANE Select	ENSP00000362441.4:p.Leu2472Ile
ENST00000675732.1:c.2512T>A	ENSP00000502598.1:p.Leu838Ile
ENST00000373344.9:c.7414T>A	ENSP00000362441.4:p.Leu2472Ile
ENST00000395603.7:c.7300T>A	ENSP00000378967.3:p.Leu2434Ile
ENST00000480283.5:c.*7042T>A	ENSP00000480196.1:n.*7042T>A
ENST00000623706.3:n.5734T>A
NM_000489.4:c.7414T>A	NP_000480.3:p.Leu2472Ile
NM_138270.3:c.7300T>A	NP_612114.2:p.Leu2434Ile
XM_005262153.3:c.7411T>A	XP_005262210.2:p.Leu2471Ile
XM_005262154.3:c.7327T>A	XP_005262211.2:p.Leu2443Ile
XM_005262155.3:c.7297T>A	XP_005262212.2:p.Leu2433Ile
XM_005262156.3:c.7249T>A	XP_005262213.2:p.Leu2417Ile
XM_005262157.3:c.7210T>A	XP_005262214.2:p.Leu2404Ile
XM_006724666.2:c.7297T>A	XP_006724729.1:p.Leu2433Ile
XM_006724667.2:c.7135T>A	XP_006724730.1:p.Leu2379Ile
XR_938400.1:n.9006T>A
NM_000489.5:c.7414T>A	NP_000480.3:p.Leu2472Ile
XM_005262153.5:c.7411T>A	XP_005262210.2:p.Leu2471Ile
XM_005262154.5:c.7327T>A	XP_005262211.2:p.Leu2443Ile
XM_005262155.4:c.7297T>A	XP_005262212.2:p.Leu2433Ile
XM_005262156.4:c.7249T>A	XP_005262213.2:p.Leu2417Ile
XM_005262157.5:c.7210T>A	XP_005262214.2:p.Leu2404Ile
XM_006724666.4:c.7297T>A	XP_006724729.1:p.Leu2433Ile
XM_006724667.3:c.7135T>A	XP_006724730.1:p.Leu2379Ile
XM_017029601.2:c.7324T>A	XP_016885090.1:p.Leu2442Ile
XM_017029602.1:c.7294T>A	XP_016885091.1:p.Leu2432Ile
XM_017029603.1:c.7246T>A	XP_016885092.1:p.Leu2416Ile
XM_017029604.2:c.7213T>A	XP_016885093.1:p.Leu2405Ile
XM_017029605.1:c.7210T>A	XP_016885094.1:p.Leu2404Ile
XM_017029606.2:c.7183T>A	XP_016885095.1:p.Leu2395Ile
XM_017029607.2:c.7180T>A	XP_016885096.1:p.Leu2394Ile
XM_017029608.2:c.7132T>A	XP_016885097.1:p.Leu2378Ile
XM_017029609.1:c.7096T>A	XP_016885098.1:p.Leu2366Ile
XM_017029610.1:c.7093T>A	XP_016885099.1:p.Leu2365Ile
XM_017029611.1:c.7048T>A	XP_016885100.1:p.Leu2350Ile
XR_001755700.2:n.7713T>A
NM_138270.4:c.7300T>A	NP_612114.2:p.Leu2434Ile
NM_000489.6:c.7414T>A MANE Select	NP_000480.3:p.Leu2472Ile
NM_138270.5:c.7300T>A	NP_612114.2:p.Leu2434Ile