Canonical Allele Identifier: CA413708188

Gene: ATRX

Linked Data

• dbSNP Id: rs2148437236
• MyVariant Identifiers: chrX:g.76907699T>A (hg19) ; chrX:g.77652209T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652209T>A , CM000685.2:g.77652209T>A	GRCh38
NC_000023.10:g.76907699T>A , CM000685.1:g.76907699T>A	GRCh37
NC_000023.9:g.76794355T>A	NCBI36
NG_008838.2:g.139013A>T
NG_008838.3:g.139061A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4462A>T MANE Select	ENSP00000362441.4:p.Lys1488Ter
ENST00000373344.9:c.4462A>T	ENSP00000362441.4:p.Lys1488Ter
ENST00000395603.7:c.4348A>T	ENSP00000378967.3:p.Lys1450Ter
ENST00000480283.5:c.*4090A>T	ENSP00000480196.1:n.*4090A>T
ENST00000623242.3:c.68A>T
NM_000489.4:c.4462A>T	NP_000480.3:p.Lys1488Ter
NM_138270.3:c.4348A>T	NP_612114.2:p.Lys1450Ter
XM_005262153.3:c.4459A>T	XP_005262210.2:p.Lys1487Ter
XM_005262154.3:c.4375A>T	XP_005262211.2:p.Lys1459Ter
XM_005262155.3:c.4345A>T	XP_005262212.2:p.Lys1449Ter
XM_005262156.3:c.4297A>T	XP_005262213.2:p.Lys1433Ter
XM_005262157.3:c.4258A>T	XP_005262214.2:p.Lys1420Ter
XM_006724666.2:c.4345A>T	XP_006724729.1:p.Lys1449Ter
XM_006724667.2:c.4183A>T	XP_006724730.1:p.Lys1395Ter
XM_006724668.2:c.4462A>T	XP_006724731.1:p.Lys1488Ter
XR_938400.1:n.4730A>T
NM_000489.5:c.4462A>T	NP_000480.3:p.Lys1488Ter
XM_005262153.5:c.4459A>T	XP_005262210.2:p.Lys1487Ter
XM_005262154.5:c.4375A>T	XP_005262211.2:p.Lys1459Ter
XM_005262155.4:c.4345A>T	XP_005262212.2:p.Lys1449Ter
XM_005262156.4:c.4297A>T	XP_005262213.2:p.Lys1433Ter
XM_005262157.5:c.4258A>T	XP_005262214.2:p.Lys1420Ter
XM_006724666.4:c.4345A>T	XP_006724729.1:p.Lys1449Ter
XM_006724667.3:c.4183A>T	XP_006724730.1:p.Lys1395Ter
XM_006724668.3:c.4462A>T	XP_006724731.1:p.Lys1488Ter
XM_017029601.2:c.4372A>T	XP_016885090.1:p.Lys1458Ter
XM_017029602.1:c.4342A>T	XP_016885091.1:p.Lys1448Ter
XM_017029603.1:c.4294A>T	XP_016885092.1:p.Lys1432Ter
XM_017029604.2:c.4261A>T	XP_016885093.1:p.Lys1421Ter
XM_017029605.1:c.4258A>T	XP_016885094.1:p.Lys1420Ter
XM_017029606.2:c.4231A>T	XP_016885095.1:p.Lys1411Ter
XM_017029607.2:c.4228A>T	XP_016885096.1:p.Lys1410Ter
XM_017029608.2:c.4180A>T	XP_016885097.1:p.Lys1394Ter
XM_017029609.1:c.4144A>T	XP_016885098.1:p.Lys1382Ter
XM_017029610.1:c.4141A>T	XP_016885099.1:p.Lys1381Ter
XM_017029611.1:c.4096A>T	XP_016885100.1:p.Lys1366Ter
XR_001755700.2:n.4687A>T
NM_138270.4:c.4348A>T	NP_612114.2:p.Lys1450Ter
NM_000489.6:c.4462A>T MANE Select	NP_000480.3:p.Lys1488Ter
NM_138270.5:c.4348A>T	NP_612114.2:p.Lys1450Ter