Canonical Allele Identifier: CA413709036

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907843T>G (hg19) ; chrX:g.77652353T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652353T>G , CM000685.2:g.77652353T>G	GRCh38
NC_000023.10:g.76907843T>G , CM000685.1:g.76907843T>G	GRCh37
NC_000023.9:g.76794499T>G	NCBI36
NG_008838.2:g.138869A>C
NG_008838.3:g.138917A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4318A>C MANE Select	ENSP00000362441.4:p.Ser1440Arg
ENST00000373344.9:c.4318A>C	ENSP00000362441.4:p.Ser1440Arg
ENST00000395603.7:c.4204A>C	ENSP00000378967.3:p.Ser1402Arg
ENST00000480283.5:c.*3946A>C	ENSP00000480196.1:n.*3946A>C
NM_000489.4:c.4318A>C	NP_000480.3:p.Ser1440Arg
NM_138270.3:c.4204A>C	NP_612114.2:p.Ser1402Arg
XM_005262153.3:c.4315A>C	XP_005262210.2:p.Ser1439Arg
XM_005262154.3:c.4231A>C	XP_005262211.2:p.Ser1411Arg
XM_005262155.3:c.4201A>C	XP_005262212.2:p.Ser1401Arg
XM_005262156.3:c.4153A>C	XP_005262213.2:p.Ser1385Arg
XM_005262157.3:c.4114A>C	XP_005262214.2:p.Ser1372Arg
XM_006724666.2:c.4201A>C	XP_006724729.1:p.Ser1401Arg
XM_006724667.2:c.4039A>C	XP_006724730.1:p.Ser1347Arg
XM_006724668.2:c.4318A>C	XP_006724731.1:p.Ser1440Arg
XR_938400.1:n.4586A>C
NM_000489.5:c.4318A>C	NP_000480.3:p.Ser1440Arg
XM_005262153.5:c.4315A>C	XP_005262210.2:p.Ser1439Arg
XM_005262154.5:c.4231A>C	XP_005262211.2:p.Ser1411Arg
XM_005262155.4:c.4201A>C	XP_005262212.2:p.Ser1401Arg
XM_005262156.4:c.4153A>C	XP_005262213.2:p.Ser1385Arg
XM_005262157.5:c.4114A>C	XP_005262214.2:p.Ser1372Arg
XM_006724666.4:c.4201A>C	XP_006724729.1:p.Ser1401Arg
XM_006724667.3:c.4039A>C	XP_006724730.1:p.Ser1347Arg
XM_006724668.3:c.4318A>C	XP_006724731.1:p.Ser1440Arg
XM_017029601.2:c.4228A>C	XP_016885090.1:p.Ser1410Arg
XM_017029602.1:c.4198A>C	XP_016885091.1:p.Ser1400Arg
XM_017029603.1:c.4150A>C	XP_016885092.1:p.Ser1384Arg
XM_017029604.2:c.4117A>C	XP_016885093.1:p.Ser1373Arg
XM_017029605.1:c.4114A>C	XP_016885094.1:p.Ser1372Arg
XM_017029606.2:c.4087A>C	XP_016885095.1:p.Ser1363Arg
XM_017029607.2:c.4084A>C	XP_016885096.1:p.Ser1362Arg
XM_017029608.2:c.4036A>C	XP_016885097.1:p.Ser1346Arg
XM_017029609.1:c.4000A>C	XP_016885098.1:p.Ser1334Arg
XM_017029610.1:c.3997A>C	XP_016885099.1:p.Ser1333Arg
XM_017029611.1:c.3952A>C	XP_016885100.1:p.Ser1318Arg
XR_001755700.2:n.4543A>C
NM_138270.4:c.4204A>C	NP_612114.2:p.Ser1402Arg
NM_000489.6:c.4318A>C MANE Select	NP_000480.3:p.Ser1440Arg
NM_138270.5:c.4204A>C	NP_612114.2:p.Ser1402Arg