Canonical Allele Identifier: CA413703965

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763917G>A (hg19) ; chrX:g.77508439G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508439G>A , CM000685.2:g.77508439G>A	GRCh38
NC_000023.10:g.76763917G>A , CM000685.1:g.76763917G>A	GRCh37
NC_000023.9:g.76650573G>A	NCBI36
NG_008838.2:g.282783C>T
NG_008838.3:g.282831C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7391C>T MANE Select	ENSP00000362441.4:p.Ala2464Val
ENST00000675732.1:c.2489C>T	ENSP00000502598.1:p.Ala830Val
ENST00000373344.9:c.7391C>T	ENSP00000362441.4:p.Ala2464Val
ENST00000395603.7:c.7277C>T	ENSP00000378967.3:p.Ala2426Val
ENST00000480283.5:c.*7019C>T	ENSP00000480196.1:n.*7019C>T
ENST00000623706.3:n.5711C>T
NM_000489.4:c.7391C>T	NP_000480.3:p.Ala2464Val
NM_138270.3:c.7277C>T	NP_612114.2:p.Ala2426Val
XM_005262153.3:c.7388C>T	XP_005262210.2:p.Ala2463Val
XM_005262154.3:c.7304C>T	XP_005262211.2:p.Ala2435Val
XM_005262155.3:c.7274C>T	XP_005262212.2:p.Ala2425Val
XM_005262156.3:c.7226C>T	XP_005262213.2:p.Ala2409Val
XM_005262157.3:c.7187C>T	XP_005262214.2:p.Ala2396Val
XM_006724666.2:c.7274C>T	XP_006724729.1:p.Ala2425Val
XM_006724667.2:c.7112C>T	XP_006724730.1:p.Ala2371Val
XR_938400.1:n.8983C>T
NM_000489.5:c.7391C>T	NP_000480.3:p.Ala2464Val
XM_005262153.5:c.7388C>T	XP_005262210.2:p.Ala2463Val
XM_005262154.5:c.7304C>T	XP_005262211.2:p.Ala2435Val
XM_005262155.4:c.7274C>T	XP_005262212.2:p.Ala2425Val
XM_005262156.4:c.7226C>T	XP_005262213.2:p.Ala2409Val
XM_005262157.5:c.7187C>T	XP_005262214.2:p.Ala2396Val
XM_006724666.4:c.7274C>T	XP_006724729.1:p.Ala2425Val
XM_006724667.3:c.7112C>T	XP_006724730.1:p.Ala2371Val
XM_017029601.2:c.7301C>T	XP_016885090.1:p.Ala2434Val
XM_017029602.1:c.7271C>T	XP_016885091.1:p.Ala2424Val
XM_017029603.1:c.7223C>T	XP_016885092.1:p.Ala2408Val
XM_017029604.2:c.7190C>T	XP_016885093.1:p.Ala2397Val
XM_017029605.1:c.7187C>T	XP_016885094.1:p.Ala2396Val
XM_017029606.2:c.7160C>T	XP_016885095.1:p.Ala2387Val
XM_017029607.2:c.7157C>T	XP_016885096.1:p.Ala2386Val
XM_017029608.2:c.7109C>T	XP_016885097.1:p.Ala2370Val
XM_017029609.1:c.7073C>T	XP_016885098.1:p.Ala2358Val
XM_017029610.1:c.7070C>T	XP_016885099.1:p.Ala2357Val
XM_017029611.1:c.7025C>T	XP_016885100.1:p.Ala2342Val
XR_001755700.2:n.7690C>T
NM_138270.4:c.7277C>T	NP_612114.2:p.Ala2426Val
NM_000489.6:c.7391C>T MANE Select	NP_000480.3:p.Ala2464Val
NM_138270.5:c.7277C>T	NP_612114.2:p.Ala2426Val