Canonical Allele Identifier: CA413707094

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776306C>A (hg19) ; chrX:g.77520828C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520828C>A , CM000685.2:g.77520828C>A	GRCh38
NC_000023.10:g.76776306C>A , CM000685.1:g.76776306C>A	GRCh37
NC_000023.9:g.76662962C>A	NCBI36
NG_008838.2:g.270394G>T
NG_008838.3:g.270442G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7160G>T MANE Select	ENSP00000362441.4:p.Arg2387Ile
ENST00000675732.1:c.2258G>T	ENSP00000502598.1:p.Arg753Ile
ENST00000373344.9:c.7160G>T	ENSP00000362441.4:p.Arg2387Ile
ENST00000395603.7:c.7046G>T	ENSP00000378967.3:p.Arg2349Ile
ENST00000480283.5:c.*6788G>T	ENSP00000480196.1:n.*6788G>T
ENST00000623706.3:n.5480G>T
ENST00000624766.1:n.391G>T
NM_000489.4:c.7160G>T	NP_000480.3:p.Arg2387Ile
NM_138270.3:c.7046G>T	NP_612114.2:p.Arg2349Ile
XM_005262153.3:c.7157G>T	XP_005262210.2:p.Arg2386Ile
XM_005262154.3:c.7073G>T	XP_005262211.2:p.Arg2358Ile
XM_005262155.3:c.7043G>T	XP_005262212.2:p.Arg2348Ile
XM_005262156.3:c.6995G>T	XP_005262213.2:p.Arg2332Ile
XM_005262157.3:c.6956G>T	XP_005262214.2:p.Arg2319Ile
XM_006724666.2:c.7043G>T	XP_006724729.1:p.Arg2348Ile
XM_006724667.2:c.6881G>T	XP_006724730.1:p.Arg2294Ile
XR_938400.1:n.8752G>T
NM_000489.5:c.7160G>T	NP_000480.3:p.Arg2387Ile
XM_005262153.5:c.7157G>T	XP_005262210.2:p.Arg2386Ile
XM_005262154.5:c.7073G>T	XP_005262211.2:p.Arg2358Ile
XM_005262155.4:c.7043G>T	XP_005262212.2:p.Arg2348Ile
XM_005262156.4:c.6995G>T	XP_005262213.2:p.Arg2332Ile
XM_005262157.5:c.6956G>T	XP_005262214.2:p.Arg2319Ile
XM_006724666.4:c.7043G>T	XP_006724729.1:p.Arg2348Ile
XM_006724667.3:c.6881G>T	XP_006724730.1:p.Arg2294Ile
XM_017029601.2:c.7070G>T	XP_016885090.1:p.Arg2357Ile
XM_017029602.1:c.7040G>T	XP_016885091.1:p.Arg2347Ile
XM_017029603.1:c.6992G>T	XP_016885092.1:p.Arg2331Ile
XM_017029604.2:c.6959G>T	XP_016885093.1:p.Arg2320Ile
XM_017029605.1:c.6956G>T	XP_016885094.1:p.Arg2319Ile
XM_017029606.2:c.6929G>T	XP_016885095.1:p.Arg2310Ile
XM_017029607.2:c.6926G>T	XP_016885096.1:p.Arg2309Ile
XM_017029608.2:c.6878G>T	XP_016885097.1:p.Arg2293Ile
XM_017029609.1:c.6842G>T	XP_016885098.1:p.Arg2281Ile
XM_017029610.1:c.6839G>T	XP_016885099.1:p.Arg2280Ile
XM_017029611.1:c.6794G>T	XP_016885100.1:p.Arg2265Ile
XR_001755700.2:n.7459G>T
NM_138270.4:c.7046G>T	NP_612114.2:p.Arg2349Ile
NM_000489.6:c.7160G>T MANE Select	NP_000480.3:p.Arg2387Ile
NM_138270.5:c.7046G>T	NP_612114.2:p.Arg2349Ile