Canonical Allele Identifier: CA413703968

Gene: ATRX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7391C>A MANE Select	ENSP00000362441.4:p.Ala2464Asp
ENST00000675732.1:c.2489C>A	ENSP00000502598.1:p.Ala830Asp
ENST00000373344.9:c.7391C>A	ENSP00000362441.4:p.Ala2464Asp
ENST00000395603.7:c.7277C>A	ENSP00000378967.3:p.Ala2426Asp
ENST00000480283.5:c.*7019C>A	ENSP00000480196.1:n.*7019C>A
ENST00000623706.3:n.5711C>A
NM_000489.4:c.7391C>A	NP_000480.3:p.Ala2464Asp
NM_138270.3:c.7277C>A	NP_612114.2:p.Ala2426Asp
XM_005262153.3:c.7388C>A	XP_005262210.2:p.Ala2463Asp
XM_005262154.3:c.7304C>A	XP_005262211.2:p.Ala2435Asp
XM_005262155.3:c.7274C>A	XP_005262212.2:p.Ala2425Asp
XM_005262156.3:c.7226C>A	XP_005262213.2:p.Ala2409Asp
XM_005262157.3:c.7187C>A	XP_005262214.2:p.Ala2396Asp
XM_006724666.2:c.7274C>A	XP_006724729.1:p.Ala2425Asp
XM_006724667.2:c.7112C>A	XP_006724730.1:p.Ala2371Asp
XR_938400.1:n.8983C>A
NM_000489.5:c.7391C>A	NP_000480.3:p.Ala2464Asp
XM_005262153.5:c.7388C>A	XP_005262210.2:p.Ala2463Asp
XM_005262154.5:c.7304C>A	XP_005262211.2:p.Ala2435Asp
XM_005262155.4:c.7274C>A	XP_005262212.2:p.Ala2425Asp
XM_005262156.4:c.7226C>A	XP_005262213.2:p.Ala2409Asp
XM_005262157.5:c.7187C>A	XP_005262214.2:p.Ala2396Asp
XM_006724666.4:c.7274C>A	XP_006724729.1:p.Ala2425Asp
XM_006724667.3:c.7112C>A	XP_006724730.1:p.Ala2371Asp
XM_017029601.2:c.7301C>A	XP_016885090.1:p.Ala2434Asp
XM_017029602.1:c.7271C>A	XP_016885091.1:p.Ala2424Asp
XM_017029603.1:c.7223C>A	XP_016885092.1:p.Ala2408Asp
XM_017029604.2:c.7190C>A	XP_016885093.1:p.Ala2397Asp
XM_017029605.1:c.7187C>A	XP_016885094.1:p.Ala2396Asp
XM_017029606.2:c.7160C>A	XP_016885095.1:p.Ala2387Asp
XM_017029607.2:c.7157C>A	XP_016885096.1:p.Ala2386Asp
XM_017029608.2:c.7109C>A	XP_016885097.1:p.Ala2370Asp
XM_017029609.1:c.7073C>A	XP_016885098.1:p.Ala2358Asp
XM_017029610.1:c.7070C>A	XP_016885099.1:p.Ala2357Asp
XM_017029611.1:c.7025C>A	XP_016885100.1:p.Ala2342Asp
XR_001755700.2:n.7690C>A
NM_138270.4:c.7277C>A	NP_612114.2:p.Ala2426Asp
NM_000489.6:c.7391C>A MANE Select	NP_000480.3:p.Ala2464Asp
NM_138270.5:c.7277C>A	NP_612114.2:p.Ala2426Asp