Canonical Allele Identifier: CA413707154

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776319C>T (hg19) ; chrX:g.77520841C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520841C>T , CM000685.2:g.77520841C>T	GRCh38
NC_000023.10:g.76776319C>T , CM000685.1:g.76776319C>T	GRCh37
NC_000023.9:g.76662975C>T	NCBI36
NG_008838.2:g.270381G>A
NG_008838.3:g.270429G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7147G>A MANE Select	ENSP00000362441.4:p.Asp2383Asn
ENST00000675732.1:c.2245G>A	ENSP00000502598.1:p.Asp749Asn
ENST00000373344.9:c.7147G>A	ENSP00000362441.4:p.Asp2383Asn
ENST00000395603.7:c.7033G>A	ENSP00000378967.3:p.Asp2345Asn
ENST00000480283.5:c.*6775G>A	ENSP00000480196.1:n.*6775G>A
ENST00000623706.3:n.5467G>A
ENST00000624766.1:n.378G>A
NM_000489.4:c.7147G>A	NP_000480.3:p.Asp2383Asn
NM_138270.3:c.7033G>A	NP_612114.2:p.Asp2345Asn
XM_005262153.3:c.7144G>A	XP_005262210.2:p.Asp2382Asn
XM_005262154.3:c.7060G>A	XP_005262211.2:p.Asp2354Asn
XM_005262155.3:c.7030G>A	XP_005262212.2:p.Asp2344Asn
XM_005262156.3:c.6982G>A	XP_005262213.2:p.Asp2328Asn
XM_005262157.3:c.6943G>A	XP_005262214.2:p.Asp2315Asn
XM_006724666.2:c.7030G>A	XP_006724729.1:p.Asp2344Asn
XM_006724667.2:c.6868G>A	XP_006724730.1:p.Asp2290Asn
XR_938400.1:n.8739G>A
NM_000489.5:c.7147G>A	NP_000480.3:p.Asp2383Asn
XM_005262153.5:c.7144G>A	XP_005262210.2:p.Asp2382Asn
XM_005262154.5:c.7060G>A	XP_005262211.2:p.Asp2354Asn
XM_005262155.4:c.7030G>A	XP_005262212.2:p.Asp2344Asn
XM_005262156.4:c.6982G>A	XP_005262213.2:p.Asp2328Asn
XM_005262157.5:c.6943G>A	XP_005262214.2:p.Asp2315Asn
XM_006724666.4:c.7030G>A	XP_006724729.1:p.Asp2344Asn
XM_006724667.3:c.6868G>A	XP_006724730.1:p.Asp2290Asn
XM_017029601.2:c.7057G>A	XP_016885090.1:p.Asp2353Asn
XM_017029602.1:c.7027G>A	XP_016885091.1:p.Asp2343Asn
XM_017029603.1:c.6979G>A	XP_016885092.1:p.Asp2327Asn
XM_017029604.2:c.6946G>A	XP_016885093.1:p.Asp2316Asn
XM_017029605.1:c.6943G>A	XP_016885094.1:p.Asp2315Asn
XM_017029606.2:c.6916G>A	XP_016885095.1:p.Asp2306Asn
XM_017029607.2:c.6913G>A	XP_016885096.1:p.Asp2305Asn
XM_017029608.2:c.6865G>A	XP_016885097.1:p.Asp2289Asn
XM_017029609.1:c.6829G>A	XP_016885098.1:p.Asp2277Asn
XM_017029610.1:c.6826G>A	XP_016885099.1:p.Asp2276Asn
XM_017029611.1:c.6781G>A	XP_016885100.1:p.Asp2261Asn
XR_001755700.2:n.7446G>A
NM_138270.4:c.7033G>A	NP_612114.2:p.Asp2345Asn
NM_000489.6:c.7147G>A MANE Select	NP_000480.3:p.Asp2383Asn
NM_138270.5:c.7033G>A	NP_612114.2:p.Asp2345Asn