Canonical Allele Identifier: CA413708194

Gene: ATRX

Linked Data

• dbSNP Id: rs2148437258
• MyVariant Identifiers: chrX:g.76907700A>C (hg19) ; chrX:g.77652210A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652210A>C , CM000685.2:g.77652210A>C	GRCh38
NC_000023.10:g.76907700A>C , CM000685.1:g.76907700A>C	GRCh37
NC_000023.9:g.76794356A>C	NCBI36
NG_008838.2:g.139012T>G
NG_008838.3:g.139060T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4461T>G MANE Select	ENSP00000362441.4:p.Asp1487Glu
ENST00000373344.9:c.4461T>G	ENSP00000362441.4:p.Asp1487Glu
ENST00000395603.7:c.4347T>G	ENSP00000378967.3:p.Asp1449Glu
ENST00000480283.5:c.*4089T>G	ENSP00000480196.1:n.*4089T>G
ENST00000623242.3:c.67T>G
NM_000489.4:c.4461T>G	NP_000480.3:p.Asp1487Glu
NM_138270.3:c.4347T>G	NP_612114.2:p.Asp1449Glu
XM_005262153.3:c.4458T>G	XP_005262210.2:p.Asp1486Glu
XM_005262154.3:c.4374T>G	XP_005262211.2:p.Asp1458Glu
XM_005262155.3:c.4344T>G	XP_005262212.2:p.Asp1448Glu
XM_005262156.3:c.4296T>G	XP_005262213.2:p.Asp1432Glu
XM_005262157.3:c.4257T>G	XP_005262214.2:p.Asp1419Glu
XM_006724666.2:c.4344T>G	XP_006724729.1:p.Asp1448Glu
XM_006724667.2:c.4182T>G	XP_006724730.1:p.Asp1394Glu
XM_006724668.2:c.4461T>G	XP_006724731.1:p.Asp1487Glu
XR_938400.1:n.4729T>G
NM_000489.5:c.4461T>G	NP_000480.3:p.Asp1487Glu
XM_005262153.5:c.4458T>G	XP_005262210.2:p.Asp1486Glu
XM_005262154.5:c.4374T>G	XP_005262211.2:p.Asp1458Glu
XM_005262155.4:c.4344T>G	XP_005262212.2:p.Asp1448Glu
XM_005262156.4:c.4296T>G	XP_005262213.2:p.Asp1432Glu
XM_005262157.5:c.4257T>G	XP_005262214.2:p.Asp1419Glu
XM_006724666.4:c.4344T>G	XP_006724729.1:p.Asp1448Glu
XM_006724667.3:c.4182T>G	XP_006724730.1:p.Asp1394Glu
XM_006724668.3:c.4461T>G	XP_006724731.1:p.Asp1487Glu
XM_017029601.2:c.4371T>G	XP_016885090.1:p.Asp1457Glu
XM_017029602.1:c.4341T>G	XP_016885091.1:p.Asp1447Glu
XM_017029603.1:c.4293T>G	XP_016885092.1:p.Asp1431Glu
XM_017029604.2:c.4260T>G	XP_016885093.1:p.Asp1420Glu
XM_017029605.1:c.4257T>G	XP_016885094.1:p.Asp1419Glu
XM_017029606.2:c.4230T>G	XP_016885095.1:p.Asp1410Glu
XM_017029607.2:c.4227T>G	XP_016885096.1:p.Asp1409Glu
XM_017029608.2:c.4179T>G	XP_016885097.1:p.Asp1393Glu
XM_017029609.1:c.4143T>G	XP_016885098.1:p.Asp1381Glu
XM_017029610.1:c.4140T>G	XP_016885099.1:p.Asp1380Glu
XM_017029611.1:c.4095T>G	XP_016885100.1:p.Asp1365Glu
XR_001755700.2:n.4686T>G
NM_138270.4:c.4347T>G	NP_612114.2:p.Asp1449Glu
NM_000489.6:c.4461T>G MANE Select	NP_000480.3:p.Asp1487Glu
NM_138270.5:c.4347T>G	NP_612114.2:p.Asp1449Glu