Canonical Allele Identifier: CA413707100

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776307T>A (hg19) ; chrX:g.77520829T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520829T>A , CM000685.2:g.77520829T>A	GRCh38
NC_000023.10:g.76776307T>A , CM000685.1:g.76776307T>A	GRCh37
NC_000023.9:g.76662963T>A	NCBI36
NG_008838.2:g.270393A>T
NG_008838.3:g.270441A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7159A>T MANE Select	ENSP00000362441.4:p.Arg2387Ter
ENST00000675732.1:c.2257A>T	ENSP00000502598.1:p.Arg753Ter
ENST00000373344.9:c.7159A>T	ENSP00000362441.4:p.Arg2387Ter
ENST00000395603.7:c.7045A>T	ENSP00000378967.3:p.Arg2349Ter
ENST00000480283.5:c.*6787A>T	ENSP00000480196.1:n.*6787A>T
ENST00000623706.3:n.5479A>T
ENST00000624766.1:n.390A>T
NM_000489.4:c.7159A>T	NP_000480.3:p.Arg2387Ter
NM_138270.3:c.7045A>T	NP_612114.2:p.Arg2349Ter
XM_005262153.3:c.7156A>T	XP_005262210.2:p.Arg2386Ter
XM_005262154.3:c.7072A>T	XP_005262211.2:p.Arg2358Ter
XM_005262155.3:c.7042A>T	XP_005262212.2:p.Arg2348Ter
XM_005262156.3:c.6994A>T	XP_005262213.2:p.Arg2332Ter
XM_005262157.3:c.6955A>T	XP_005262214.2:p.Arg2319Ter
XM_006724666.2:c.7042A>T	XP_006724729.1:p.Arg2348Ter
XM_006724667.2:c.6880A>T	XP_006724730.1:p.Arg2294Ter
XR_938400.1:n.8751A>T
NM_000489.5:c.7159A>T	NP_000480.3:p.Arg2387Ter
XM_005262153.5:c.7156A>T	XP_005262210.2:p.Arg2386Ter
XM_005262154.5:c.7072A>T	XP_005262211.2:p.Arg2358Ter
XM_005262155.4:c.7042A>T	XP_005262212.2:p.Arg2348Ter
XM_005262156.4:c.6994A>T	XP_005262213.2:p.Arg2332Ter
XM_005262157.5:c.6955A>T	XP_005262214.2:p.Arg2319Ter
XM_006724666.4:c.7042A>T	XP_006724729.1:p.Arg2348Ter
XM_006724667.3:c.6880A>T	XP_006724730.1:p.Arg2294Ter
XM_017029601.2:c.7069A>T	XP_016885090.1:p.Arg2357Ter
XM_017029602.1:c.7039A>T	XP_016885091.1:p.Arg2347Ter
XM_017029603.1:c.6991A>T	XP_016885092.1:p.Arg2331Ter
XM_017029604.2:c.6958A>T	XP_016885093.1:p.Arg2320Ter
XM_017029605.1:c.6955A>T	XP_016885094.1:p.Arg2319Ter
XM_017029606.2:c.6928A>T	XP_016885095.1:p.Arg2310Ter
XM_017029607.2:c.6925A>T	XP_016885096.1:p.Arg2309Ter
XM_017029608.2:c.6877A>T	XP_016885097.1:p.Arg2293Ter
XM_017029609.1:c.6841A>T	XP_016885098.1:p.Arg2281Ter
XM_017029610.1:c.6838A>T	XP_016885099.1:p.Arg2280Ter
XM_017029611.1:c.6793A>T	XP_016885100.1:p.Arg2265Ter
XR_001755700.2:n.7458A>T
NM_138270.4:c.7045A>T	NP_612114.2:p.Arg2349Ter
NM_000489.6:c.7159A>T MANE Select	NP_000480.3:p.Arg2387Ter
NM_138270.5:c.7045A>T	NP_612114.2:p.Arg2349Ter