Canonical Allele Identifier: CA413708269

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907717T>C (hg19) ; chrX:g.77652227T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652227T>C , CM000685.2:g.77652227T>C	GRCh38
NC_000023.10:g.76907717T>C , CM000685.1:g.76907717T>C	GRCh37
NC_000023.9:g.76794373T>C	NCBI36
NG_008838.2:g.138995A>G
NG_008838.3:g.139043A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4444A>G MANE Select	ENSP00000362441.4:p.Lys1482Glu
ENST00000373344.9:c.4444A>G	ENSP00000362441.4:p.Lys1482Glu
ENST00000395603.7:c.4330A>G	ENSP00000378967.3:p.Lys1444Glu
ENST00000480283.5:c.*4072A>G	ENSP00000480196.1:n.*4072A>G
ENST00000623242.3:c.50A>G
NM_000489.4:c.4444A>G	NP_000480.3:p.Lys1482Glu
NM_138270.3:c.4330A>G	NP_612114.2:p.Lys1444Glu
XM_005262153.3:c.4441A>G	XP_005262210.2:p.Lys1481Glu
XM_005262154.3:c.4357A>G	XP_005262211.2:p.Lys1453Glu
XM_005262155.3:c.4327A>G	XP_005262212.2:p.Lys1443Glu
XM_005262156.3:c.4279A>G	XP_005262213.2:p.Lys1427Glu
XM_005262157.3:c.4240A>G	XP_005262214.2:p.Lys1414Glu
XM_006724666.2:c.4327A>G	XP_006724729.1:p.Lys1443Glu
XM_006724667.2:c.4165A>G	XP_006724730.1:p.Lys1389Glu
XM_006724668.2:c.4444A>G	XP_006724731.1:p.Lys1482Glu
XR_938400.1:n.4712A>G
NM_000489.5:c.4444A>G	NP_000480.3:p.Lys1482Glu
XM_005262153.5:c.4441A>G	XP_005262210.2:p.Lys1481Glu
XM_005262154.5:c.4357A>G	XP_005262211.2:p.Lys1453Glu
XM_005262155.4:c.4327A>G	XP_005262212.2:p.Lys1443Glu
XM_005262156.4:c.4279A>G	XP_005262213.2:p.Lys1427Glu
XM_005262157.5:c.4240A>G	XP_005262214.2:p.Lys1414Glu
XM_006724666.4:c.4327A>G	XP_006724729.1:p.Lys1443Glu
XM_006724667.3:c.4165A>G	XP_006724730.1:p.Lys1389Glu
XM_006724668.3:c.4444A>G	XP_006724731.1:p.Lys1482Glu
XM_017029601.2:c.4354A>G	XP_016885090.1:p.Lys1452Glu
XM_017029602.1:c.4324A>G	XP_016885091.1:p.Lys1442Glu
XM_017029603.1:c.4276A>G	XP_016885092.1:p.Lys1426Glu
XM_017029604.2:c.4243A>G	XP_016885093.1:p.Lys1415Glu
XM_017029605.1:c.4240A>G	XP_016885094.1:p.Lys1414Glu
XM_017029606.2:c.4213A>G	XP_016885095.1:p.Lys1405Glu
XM_017029607.2:c.4210A>G	XP_016885096.1:p.Lys1404Glu
XM_017029608.2:c.4162A>G	XP_016885097.1:p.Lys1388Glu
XM_017029609.1:c.4126A>G	XP_016885098.1:p.Lys1376Glu
XM_017029610.1:c.4123A>G	XP_016885099.1:p.Lys1375Glu
XM_017029611.1:c.4078A>G	XP_016885100.1:p.Lys1360Glu
XR_001755700.2:n.4669A>G
NM_138270.4:c.4330A>G	NP_612114.2:p.Lys1444Glu
NM_000489.6:c.4444A>G MANE Select	NP_000480.3:p.Lys1482Glu
NM_138270.5:c.4330A>G	NP_612114.2:p.Lys1444Glu