Canonical Allele Identifier: CA413707098

Gene: ATRX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7160G>A MANE Select	ENSP00000362441.4:p.Arg2387Lys
ENST00000675732.1:c.2258G>A	ENSP00000502598.1:p.Arg753Lys
ENST00000373344.9:c.7160G>A	ENSP00000362441.4:p.Arg2387Lys
ENST00000395603.7:c.7046G>A	ENSP00000378967.3:p.Arg2349Lys
ENST00000480283.5:c.*6788G>A	ENSP00000480196.1:n.*6788G>A
ENST00000623706.3:n.5480G>A
ENST00000624766.1:n.391G>A
NM_000489.4:c.7160G>A	NP_000480.3:p.Arg2387Lys
NM_138270.3:c.7046G>A	NP_612114.2:p.Arg2349Lys
XM_005262153.3:c.7157G>A	XP_005262210.2:p.Arg2386Lys
XM_005262154.3:c.7073G>A	XP_005262211.2:p.Arg2358Lys
XM_005262155.3:c.7043G>A	XP_005262212.2:p.Arg2348Lys
XM_005262156.3:c.6995G>A	XP_005262213.2:p.Arg2332Lys
XM_005262157.3:c.6956G>A	XP_005262214.2:p.Arg2319Lys
XM_006724666.2:c.7043G>A	XP_006724729.1:p.Arg2348Lys
XM_006724667.2:c.6881G>A	XP_006724730.1:p.Arg2294Lys
XR_938400.1:n.8752G>A
NM_000489.5:c.7160G>A	NP_000480.3:p.Arg2387Lys
XM_005262153.5:c.7157G>A	XP_005262210.2:p.Arg2386Lys
XM_005262154.5:c.7073G>A	XP_005262211.2:p.Arg2358Lys
XM_005262155.4:c.7043G>A	XP_005262212.2:p.Arg2348Lys
XM_005262156.4:c.6995G>A	XP_005262213.2:p.Arg2332Lys
XM_005262157.5:c.6956G>A	XP_005262214.2:p.Arg2319Lys
XM_006724666.4:c.7043G>A	XP_006724729.1:p.Arg2348Lys
XM_006724667.3:c.6881G>A	XP_006724730.1:p.Arg2294Lys
XM_017029601.2:c.7070G>A	XP_016885090.1:p.Arg2357Lys
XM_017029602.1:c.7040G>A	XP_016885091.1:p.Arg2347Lys
XM_017029603.1:c.6992G>A	XP_016885092.1:p.Arg2331Lys
XM_017029604.2:c.6959G>A	XP_016885093.1:p.Arg2320Lys
XM_017029605.1:c.6956G>A	XP_016885094.1:p.Arg2319Lys
XM_017029606.2:c.6929G>A	XP_016885095.1:p.Arg2310Lys
XM_017029607.2:c.6926G>A	XP_016885096.1:p.Arg2309Lys
XM_017029608.2:c.6878G>A	XP_016885097.1:p.Arg2293Lys
XM_017029609.1:c.6842G>A	XP_016885098.1:p.Arg2281Lys
XM_017029610.1:c.6839G>A	XP_016885099.1:p.Arg2280Lys
XM_017029611.1:c.6794G>A	XP_016885100.1:p.Arg2265Lys
XR_001755700.2:n.7459G>A
NM_138270.4:c.7046G>A	NP_612114.2:p.Arg2349Lys
NM_000489.6:c.7160G>A MANE Select	NP_000480.3:p.Arg2387Lys
NM_138270.5:c.7046G>A	NP_612114.2:p.Arg2349Lys