Canonical Allele Identifier: CA413709035

Gene: ATRX

Linked Data

• dbSNP Id: rs2148440780
• MyVariant Identifiers: chrX:g.76907843T>C (hg19) ; chrX:g.77652353T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4318A>G MANE Select	ENSP00000362441.4:p.Ser1440Gly
ENST00000373344.9:c.4318A>G	ENSP00000362441.4:p.Ser1440Gly
ENST00000395603.7:c.4204A>G	ENSP00000378967.3:p.Ser1402Gly
ENST00000480283.5:c.*3946A>G	ENSP00000480196.1:n.*3946A>G
NM_000489.4:c.4318A>G	NP_000480.3:p.Ser1440Gly
NM_138270.3:c.4204A>G	NP_612114.2:p.Ser1402Gly
XM_005262153.3:c.4315A>G	XP_005262210.2:p.Ser1439Gly
XM_005262154.3:c.4231A>G	XP_005262211.2:p.Ser1411Gly
XM_005262155.3:c.4201A>G	XP_005262212.2:p.Ser1401Gly
XM_005262156.3:c.4153A>G	XP_005262213.2:p.Ser1385Gly
XM_005262157.3:c.4114A>G	XP_005262214.2:p.Ser1372Gly
XM_006724666.2:c.4201A>G	XP_006724729.1:p.Ser1401Gly
XM_006724667.2:c.4039A>G	XP_006724730.1:p.Ser1347Gly
XM_006724668.2:c.4318A>G	XP_006724731.1:p.Ser1440Gly
XR_938400.1:n.4586A>G
NM_000489.5:c.4318A>G	NP_000480.3:p.Ser1440Gly
XM_005262153.5:c.4315A>G	XP_005262210.2:p.Ser1439Gly
XM_005262154.5:c.4231A>G	XP_005262211.2:p.Ser1411Gly
XM_005262155.4:c.4201A>G	XP_005262212.2:p.Ser1401Gly
XM_005262156.4:c.4153A>G	XP_005262213.2:p.Ser1385Gly
XM_005262157.5:c.4114A>G	XP_005262214.2:p.Ser1372Gly
XM_006724666.4:c.4201A>G	XP_006724729.1:p.Ser1401Gly
XM_006724667.3:c.4039A>G	XP_006724730.1:p.Ser1347Gly
XM_006724668.3:c.4318A>G	XP_006724731.1:p.Ser1440Gly
XM_017029601.2:c.4228A>G	XP_016885090.1:p.Ser1410Gly
XM_017029602.1:c.4198A>G	XP_016885091.1:p.Ser1400Gly
XM_017029603.1:c.4150A>G	XP_016885092.1:p.Ser1384Gly
XM_017029604.2:c.4117A>G	XP_016885093.1:p.Ser1373Gly
XM_017029605.1:c.4114A>G	XP_016885094.1:p.Ser1372Gly
XM_017029606.2:c.4087A>G	XP_016885095.1:p.Ser1363Gly
XM_017029607.2:c.4084A>G	XP_016885096.1:p.Ser1362Gly
XM_017029608.2:c.4036A>G	XP_016885097.1:p.Ser1346Gly
XM_017029609.1:c.4000A>G	XP_016885098.1:p.Ser1334Gly
XM_017029610.1:c.3997A>G	XP_016885099.1:p.Ser1333Gly
XM_017029611.1:c.3952A>G	XP_016885100.1:p.Ser1318Gly
XR_001755700.2:n.4543A>G
NM_138270.4:c.4204A>G	NP_612114.2:p.Ser1402Gly
NM_000489.6:c.4318A>G MANE Select	NP_000480.3:p.Ser1440Gly
NM_138270.5:c.4204A>G	NP_612114.2:p.Ser1402Gly