Canonical Allele Identifier: CA413703707

Gene: ATRX

Linked Data

• dbSNP Id: rs2147646513
• gnomAD v4: X-77508406-G-A
• MyVariant Identifiers: chrX:g.76763884G>A (hg19) ; chrX:g.77508406G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508406G>A , CM000685.2:g.77508406G>A	GRCh38
NC_000023.10:g.76763884G>A , CM000685.1:g.76763884G>A	GRCh37
NC_000023.9:g.76650540G>A	NCBI36
NG_008838.2:g.282816C>T
NG_008838.3:g.282864C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7424C>T MANE Select	ENSP00000362441.4:p.Ala2475Val
ENST00000675732.1:c.2522C>T	ENSP00000502598.1:p.Ala841Val
ENST00000373344.9:c.7424C>T	ENSP00000362441.4:p.Ala2475Val
ENST00000395603.7:c.7310C>T	ENSP00000378967.3:p.Ala2437Val
ENST00000480283.5:c.*7052C>T	ENSP00000480196.1:n.*7052C>T
ENST00000623706.3:n.5744C>T
NM_000489.4:c.7424C>T	NP_000480.3:p.Ala2475Val
NM_138270.3:c.7310C>T	NP_612114.2:p.Ala2437Val
XM_005262153.3:c.7421C>T	XP_005262210.2:p.Ala2474Val
XM_005262154.3:c.7337C>T	XP_005262211.2:p.Ala2446Val
XM_005262155.3:c.7307C>T	XP_005262212.2:p.Ala2436Val
XM_005262156.3:c.7259C>T	XP_005262213.2:p.Ala2420Val
XM_005262157.3:c.7220C>T	XP_005262214.2:p.Ala2407Val
XM_006724666.2:c.7307C>T	XP_006724729.1:p.Ala2436Val
XM_006724667.2:c.7145C>T	XP_006724730.1:p.Ala2382Val
XR_938400.1:n.9016C>T
NM_000489.5:c.7424C>T	NP_000480.3:p.Ala2475Val
XM_005262153.5:c.7421C>T	XP_005262210.2:p.Ala2474Val
XM_005262154.5:c.7337C>T	XP_005262211.2:p.Ala2446Val
XM_005262155.4:c.7307C>T	XP_005262212.2:p.Ala2436Val
XM_005262156.4:c.7259C>T	XP_005262213.2:p.Ala2420Val
XM_005262157.5:c.7220C>T	XP_005262214.2:p.Ala2407Val
XM_006724666.4:c.7307C>T	XP_006724729.1:p.Ala2436Val
XM_006724667.3:c.7145C>T	XP_006724730.1:p.Ala2382Val
XM_017029601.2:c.7334C>T	XP_016885090.1:p.Ala2445Val
XM_017029602.1:c.7304C>T	XP_016885091.1:p.Ala2435Val
XM_017029603.1:c.7256C>T	XP_016885092.1:p.Ala2419Val
XM_017029604.2:c.7223C>T	XP_016885093.1:p.Ala2408Val
XM_017029605.1:c.7220C>T	XP_016885094.1:p.Ala2407Val
XM_017029606.2:c.7193C>T	XP_016885095.1:p.Ala2398Val
XM_017029607.2:c.7190C>T	XP_016885096.1:p.Ala2397Val
XM_017029608.2:c.7142C>T	XP_016885097.1:p.Ala2381Val
XM_017029609.1:c.7106C>T	XP_016885098.1:p.Ala2369Val
XM_017029610.1:c.7103C>T	XP_016885099.1:p.Ala2368Val
XM_017029611.1:c.7058C>T	XP_016885100.1:p.Ala2353Val
XR_001755700.2:n.7723C>T
NM_138270.4:c.7310C>T	NP_612114.2:p.Ala2437Val
NM_000489.6:c.7424C>T MANE Select	NP_000480.3:p.Ala2475Val
NM_138270.5:c.7310C>T	NP_612114.2:p.Ala2437Val