Canonical Allele Identifier: CA413704119

Gene: ATRX

Linked Data

• dbSNP Id: rs2147648301
• MyVariant Identifiers: chrX:g.76763943A>T (hg19) ; chrX:g.77508465A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508465A>T , CM000685.2:g.77508465A>T	GRCh38
NC_000023.10:g.76763943A>T , CM000685.1:g.76763943A>T	GRCh37
NC_000023.9:g.76650599A>T	NCBI36
NG_008838.2:g.282757T>A
NG_008838.3:g.282805T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7365T>A MANE Select	ENSP00000362441.4:p.Asp2455Glu
ENST00000675732.1:c.2463T>A	ENSP00000502598.1:p.Asp821Glu
ENST00000373344.9:c.7365T>A	ENSP00000362441.4:p.Asp2455Glu
ENST00000395603.7:c.7251T>A	ENSP00000378967.3:p.Asp2417Glu
ENST00000480283.5:c.*6993T>A	ENSP00000480196.1:n.*6993T>A
ENST00000623706.3:n.5685T>A
NM_000489.4:c.7365T>A	NP_000480.3:p.Asp2455Glu
NM_138270.3:c.7251T>A	NP_612114.2:p.Asp2417Glu
XM_005262153.3:c.7362T>A	XP_005262210.2:p.Asp2454Glu
XM_005262154.3:c.7278T>A	XP_005262211.2:p.Asp2426Glu
XM_005262155.3:c.7248T>A	XP_005262212.2:p.Asp2416Glu
XM_005262156.3:c.7200T>A	XP_005262213.2:p.Asp2400Glu
XM_005262157.3:c.7161T>A	XP_005262214.2:p.Asp2387Glu
XM_006724666.2:c.7248T>A	XP_006724729.1:p.Asp2416Glu
XM_006724667.2:c.7086T>A	XP_006724730.1:p.Asp2362Glu
XR_938400.1:n.8957T>A
NM_000489.5:c.7365T>A	NP_000480.3:p.Asp2455Glu
XM_005262153.5:c.7362T>A	XP_005262210.2:p.Asp2454Glu
XM_005262154.5:c.7278T>A	XP_005262211.2:p.Asp2426Glu
XM_005262155.4:c.7248T>A	XP_005262212.2:p.Asp2416Glu
XM_005262156.4:c.7200T>A	XP_005262213.2:p.Asp2400Glu
XM_005262157.5:c.7161T>A	XP_005262214.2:p.Asp2387Glu
XM_006724666.4:c.7248T>A	XP_006724729.1:p.Asp2416Glu
XM_006724667.3:c.7086T>A	XP_006724730.1:p.Asp2362Glu
XM_017029601.2:c.7275T>A	XP_016885090.1:p.Asp2425Glu
XM_017029602.1:c.7245T>A	XP_016885091.1:p.Asp2415Glu
XM_017029603.1:c.7197T>A	XP_016885092.1:p.Asp2399Glu
XM_017029604.2:c.7164T>A	XP_016885093.1:p.Asp2388Glu
XM_017029605.1:c.7161T>A	XP_016885094.1:p.Asp2387Glu
XM_017029606.2:c.7134T>A	XP_016885095.1:p.Asp2378Glu
XM_017029607.2:c.7131T>A	XP_016885096.1:p.Asp2377Glu
XM_017029608.2:c.7083T>A	XP_016885097.1:p.Asp2361Glu
XM_017029609.1:c.7047T>A	XP_016885098.1:p.Asp2349Glu
XM_017029610.1:c.7044T>A	XP_016885099.1:p.Asp2348Glu
XM_017029611.1:c.6999T>A	XP_016885100.1:p.Asp2333Glu
XR_001755700.2:n.7664T>A
NM_138270.4:c.7251T>A	NP_612114.2:p.Asp2417Glu
NM_000489.6:c.7365T>A MANE Select	NP_000480.3:p.Asp2455Glu
NM_138270.5:c.7251T>A	NP_612114.2:p.Asp2417Glu