Canonical Allele Identifier: CA413707243

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776338T>A (hg19) ; chrX:g.77520860T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520860T>A , CM000685.2:g.77520860T>A	GRCh38
NC_000023.10:g.76776338T>A , CM000685.1:g.76776338T>A	GRCh37
NC_000023.9:g.76662994T>A	NCBI36
NG_008838.2:g.270362A>T
NG_008838.3:g.270410A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7128A>T MANE Select	ENSP00000362441.4:p.Arg2376Ser
ENST00000675732.1:c.2226A>T	ENSP00000502598.1:p.Arg742Ser
ENST00000373344.9:c.7128A>T	ENSP00000362441.4:p.Arg2376Ser
ENST00000395603.7:c.7014A>T	ENSP00000378967.3:p.Arg2338Ser
ENST00000480283.5:c.*6756A>T	ENSP00000480196.1:n.*6756A>T
ENST00000623706.3:n.5448A>T
ENST00000624766.1:n.359A>T
NM_000489.4:c.7128A>T	NP_000480.3:p.Arg2376Ser
NM_138270.3:c.7014A>T	NP_612114.2:p.Arg2338Ser
XM_005262153.3:c.7125A>T	XP_005262210.2:p.Arg2375Ser
XM_005262154.3:c.7041A>T	XP_005262211.2:p.Arg2347Ser
XM_005262155.3:c.7011A>T	XP_005262212.2:p.Arg2337Ser
XM_005262156.3:c.6963A>T	XP_005262213.2:p.Arg2321Ser
XM_005262157.3:c.6924A>T	XP_005262214.2:p.Arg2308Ser
XM_006724666.2:c.7011A>T	XP_006724729.1:p.Arg2337Ser
XM_006724667.2:c.6849A>T	XP_006724730.1:p.Arg2283Ser
XR_938400.1:n.8720A>T
NM_000489.5:c.7128A>T	NP_000480.3:p.Arg2376Ser
XM_005262153.5:c.7125A>T	XP_005262210.2:p.Arg2375Ser
XM_005262154.5:c.7041A>T	XP_005262211.2:p.Arg2347Ser
XM_005262155.4:c.7011A>T	XP_005262212.2:p.Arg2337Ser
XM_005262156.4:c.6963A>T	XP_005262213.2:p.Arg2321Ser
XM_005262157.5:c.6924A>T	XP_005262214.2:p.Arg2308Ser
XM_006724666.4:c.7011A>T	XP_006724729.1:p.Arg2337Ser
XM_006724667.3:c.6849A>T	XP_006724730.1:p.Arg2283Ser
XM_017029601.2:c.7038A>T	XP_016885090.1:p.Arg2346Ser
XM_017029602.1:c.7008A>T	XP_016885091.1:p.Arg2336Ser
XM_017029603.1:c.6960A>T	XP_016885092.1:p.Arg2320Ser
XM_017029604.2:c.6927A>T	XP_016885093.1:p.Arg2309Ser
XM_017029605.1:c.6924A>T	XP_016885094.1:p.Arg2308Ser
XM_017029606.2:c.6897A>T	XP_016885095.1:p.Arg2299Ser
XM_017029607.2:c.6894A>T	XP_016885096.1:p.Arg2298Ser
XM_017029608.2:c.6846A>T	XP_016885097.1:p.Arg2282Ser
XM_017029609.1:c.6810A>T	XP_016885098.1:p.Arg2270Ser
XM_017029610.1:c.6807A>T	XP_016885099.1:p.Arg2269Ser
XM_017029611.1:c.6762A>T	XP_016885100.1:p.Arg2254Ser
XR_001755700.2:n.7427A>T
NM_138270.4:c.7014A>T	NP_612114.2:p.Arg2338Ser
NM_000489.6:c.7128A>T MANE Select	NP_000480.3:p.Arg2376Ser
NM_138270.5:c.7014A>T	NP_612114.2:p.Arg2338Ser