Canonical Allele Identifier: CA413707257

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776341A>T (hg19) ; chrX:g.77520863A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520863A>T , CM000685.2:g.77520863A>T	GRCh38
NC_000023.10:g.76776341A>T , CM000685.1:g.76776341A>T	GRCh37
NC_000023.9:g.76662997A>T	NCBI36
NG_008838.2:g.270359T>A
NG_008838.3:g.270407T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7125T>A MANE Select	ENSP00000362441.4:p.Ser2375Arg
ENST00000675732.1:c.2223T>A	ENSP00000502598.1:p.Ser741Arg
ENST00000373344.9:c.7125T>A	ENSP00000362441.4:p.Ser2375Arg
ENST00000395603.7:c.7011T>A	ENSP00000378967.3:p.Ser2337Arg
ENST00000480283.5:c.*6753T>A	ENSP00000480196.1:n.*6753T>A
ENST00000623706.3:n.5445T>A
ENST00000624766.1:n.356T>A
NM_000489.4:c.7125T>A	NP_000480.3:p.Ser2375Arg
NM_138270.3:c.7011T>A	NP_612114.2:p.Ser2337Arg
XM_005262153.3:c.7122T>A	XP_005262210.2:p.Ser2374Arg
XM_005262154.3:c.7038T>A	XP_005262211.2:p.Ser2346Arg
XM_005262155.3:c.7008T>A	XP_005262212.2:p.Ser2336Arg
XM_005262156.3:c.6960T>A	XP_005262213.2:p.Ser2320Arg
XM_005262157.3:c.6921T>A	XP_005262214.2:p.Ser2307Arg
XM_006724666.2:c.7008T>A	XP_006724729.1:p.Ser2336Arg
XM_006724667.2:c.6846T>A	XP_006724730.1:p.Ser2282Arg
XR_938400.1:n.8717T>A
NM_000489.5:c.7125T>A	NP_000480.3:p.Ser2375Arg
XM_005262153.5:c.7122T>A	XP_005262210.2:p.Ser2374Arg
XM_005262154.5:c.7038T>A	XP_005262211.2:p.Ser2346Arg
XM_005262155.4:c.7008T>A	XP_005262212.2:p.Ser2336Arg
XM_005262156.4:c.6960T>A	XP_005262213.2:p.Ser2320Arg
XM_005262157.5:c.6921T>A	XP_005262214.2:p.Ser2307Arg
XM_006724666.4:c.7008T>A	XP_006724729.1:p.Ser2336Arg
XM_006724667.3:c.6846T>A	XP_006724730.1:p.Ser2282Arg
XM_017029601.2:c.7035T>A	XP_016885090.1:p.Ser2345Arg
XM_017029602.1:c.7005T>A	XP_016885091.1:p.Ser2335Arg
XM_017029603.1:c.6957T>A	XP_016885092.1:p.Ser2319Arg
XM_017029604.2:c.6924T>A	XP_016885093.1:p.Ser2308Arg
XM_017029605.1:c.6921T>A	XP_016885094.1:p.Ser2307Arg
XM_017029606.2:c.6894T>A	XP_016885095.1:p.Ser2298Arg
XM_017029607.2:c.6891T>A	XP_016885096.1:p.Ser2297Arg
XM_017029608.2:c.6843T>A	XP_016885097.1:p.Ser2281Arg
XM_017029609.1:c.6807T>A	XP_016885098.1:p.Ser2269Arg
XM_017029610.1:c.6804T>A	XP_016885099.1:p.Ser2268Arg
XM_017029611.1:c.6759T>A	XP_016885100.1:p.Ser2253Arg
XR_001755700.2:n.7424T>A
NM_138270.4:c.7011T>A	NP_612114.2:p.Ser2337Arg
NM_000489.6:c.7125T>A MANE Select	NP_000480.3:p.Ser2375Arg
NM_138270.5:c.7011T>A	NP_612114.2:p.Ser2337Arg