Canonical Allele Identifier: CA413704027

Gene: ATRX

Linked Data

• dbSNP Id: rs2147647913
• MyVariant Identifiers: chrX:g.76763930A>T (hg19) ; chrX:g.77508452A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508452A>T , CM000685.2:g.77508452A>T	GRCh38
NC_000023.10:g.76763930A>T , CM000685.1:g.76763930A>T	GRCh37
NC_000023.9:g.76650586A>T	NCBI36
NG_008838.2:g.282770T>A
NG_008838.3:g.282818T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7378T>A MANE Select	ENSP00000362441.4:p.Tyr2460Asn
ENST00000675732.1:c.2476T>A	ENSP00000502598.1:p.Tyr826Asn
ENST00000373344.9:c.7378T>A	ENSP00000362441.4:p.Tyr2460Asn
ENST00000395603.7:c.7264T>A	ENSP00000378967.3:p.Tyr2422Asn
ENST00000480283.5:c.*7006T>A	ENSP00000480196.1:n.*7006T>A
ENST00000623706.3:n.5698T>A
NM_000489.4:c.7378T>A	NP_000480.3:p.Tyr2460Asn
NM_138270.3:c.7264T>A	NP_612114.2:p.Tyr2422Asn
XM_005262153.3:c.7375T>A	XP_005262210.2:p.Tyr2459Asn
XM_005262154.3:c.7291T>A	XP_005262211.2:p.Tyr2431Asn
XM_005262155.3:c.7261T>A	XP_005262212.2:p.Tyr2421Asn
XM_005262156.3:c.7213T>A	XP_005262213.2:p.Tyr2405Asn
XM_005262157.3:c.7174T>A	XP_005262214.2:p.Tyr2392Asn
XM_006724666.2:c.7261T>A	XP_006724729.1:p.Tyr2421Asn
XM_006724667.2:c.7099T>A	XP_006724730.1:p.Tyr2367Asn
XR_938400.1:n.8970T>A
NM_000489.5:c.7378T>A	NP_000480.3:p.Tyr2460Asn
XM_005262153.5:c.7375T>A	XP_005262210.2:p.Tyr2459Asn
XM_005262154.5:c.7291T>A	XP_005262211.2:p.Tyr2431Asn
XM_005262155.4:c.7261T>A	XP_005262212.2:p.Tyr2421Asn
XM_005262156.4:c.7213T>A	XP_005262213.2:p.Tyr2405Asn
XM_005262157.5:c.7174T>A	XP_005262214.2:p.Tyr2392Asn
XM_006724666.4:c.7261T>A	XP_006724729.1:p.Tyr2421Asn
XM_006724667.3:c.7099T>A	XP_006724730.1:p.Tyr2367Asn
XM_017029601.2:c.7288T>A	XP_016885090.1:p.Tyr2430Asn
XM_017029602.1:c.7258T>A	XP_016885091.1:p.Tyr2420Asn
XM_017029603.1:c.7210T>A	XP_016885092.1:p.Tyr2404Asn
XM_017029604.2:c.7177T>A	XP_016885093.1:p.Tyr2393Asn
XM_017029605.1:c.7174T>A	XP_016885094.1:p.Tyr2392Asn
XM_017029606.2:c.7147T>A	XP_016885095.1:p.Tyr2383Asn
XM_017029607.2:c.7144T>A	XP_016885096.1:p.Tyr2382Asn
XM_017029608.2:c.7096T>A	XP_016885097.1:p.Tyr2366Asn
XM_017029609.1:c.7060T>A	XP_016885098.1:p.Tyr2354Asn
XM_017029610.1:c.7057T>A	XP_016885099.1:p.Tyr2353Asn
XM_017029611.1:c.7012T>A	XP_016885100.1:p.Tyr2338Asn
XR_001755700.2:n.7677T>A
NM_138270.4:c.7264T>A	NP_612114.2:p.Tyr2422Asn
NM_000489.6:c.7378T>A MANE Select	NP_000480.3:p.Tyr2460Asn
NM_138270.5:c.7264T>A	NP_612114.2:p.Tyr2422Asn