Canonical Allele Identifier: CA413708870

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907813C>A (hg19) ; chrX:g.77652323C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652323C>A , CM000685.2:g.77652323C>A	GRCh38
NC_000023.10:g.76907813C>A , CM000685.1:g.76907813C>A	GRCh37
NC_000023.9:g.76794469C>A	NCBI36
NG_008838.2:g.138899G>T
NG_008838.3:g.138947G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4348G>T MANE Select	ENSP00000362441.4:p.Glu1450Ter
ENST00000373344.9:c.4348G>T	ENSP00000362441.4:p.Glu1450Ter
ENST00000395603.7:c.4234G>T	ENSP00000378967.3:p.Glu1412Ter
ENST00000480283.5:c.*3976G>T	ENSP00000480196.1:n.*3976G>T
NM_000489.4:c.4348G>T	NP_000480.3:p.Glu1450Ter
NM_138270.3:c.4234G>T	NP_612114.2:p.Glu1412Ter
XM_005262153.3:c.4345G>T	XP_005262210.2:p.Glu1449Ter
XM_005262154.3:c.4261G>T	XP_005262211.2:p.Glu1421Ter
XM_005262155.3:c.4231G>T	XP_005262212.2:p.Glu1411Ter
XM_005262156.3:c.4183G>T	XP_005262213.2:p.Glu1395Ter
XM_005262157.3:c.4144G>T	XP_005262214.2:p.Glu1382Ter
XM_006724666.2:c.4231G>T	XP_006724729.1:p.Glu1411Ter
XM_006724667.2:c.4069G>T	XP_006724730.1:p.Glu1357Ter
XM_006724668.2:c.4348G>T	XP_006724731.1:p.Glu1450Ter
XR_938400.1:n.4616G>T
NM_000489.5:c.4348G>T	NP_000480.3:p.Glu1450Ter
XM_005262153.5:c.4345G>T	XP_005262210.2:p.Glu1449Ter
XM_005262154.5:c.4261G>T	XP_005262211.2:p.Glu1421Ter
XM_005262155.4:c.4231G>T	XP_005262212.2:p.Glu1411Ter
XM_005262156.4:c.4183G>T	XP_005262213.2:p.Glu1395Ter
XM_005262157.5:c.4144G>T	XP_005262214.2:p.Glu1382Ter
XM_006724666.4:c.4231G>T	XP_006724729.1:p.Glu1411Ter
XM_006724667.3:c.4069G>T	XP_006724730.1:p.Glu1357Ter
XM_006724668.3:c.4348G>T	XP_006724731.1:p.Glu1450Ter
XM_017029601.2:c.4258G>T	XP_016885090.1:p.Glu1420Ter
XM_017029602.1:c.4228G>T	XP_016885091.1:p.Glu1410Ter
XM_017029603.1:c.4180G>T	XP_016885092.1:p.Glu1394Ter
XM_017029604.2:c.4147G>T	XP_016885093.1:p.Glu1383Ter
XM_017029605.1:c.4144G>T	XP_016885094.1:p.Glu1382Ter
XM_017029606.2:c.4117G>T	XP_016885095.1:p.Glu1373Ter
XM_017029607.2:c.4114G>T	XP_016885096.1:p.Glu1372Ter
XM_017029608.2:c.4066G>T	XP_016885097.1:p.Glu1356Ter
XM_017029609.1:c.4030G>T	XP_016885098.1:p.Glu1344Ter
XM_017029610.1:c.4027G>T	XP_016885099.1:p.Glu1343Ter
XM_017029611.1:c.3982G>T	XP_016885100.1:p.Glu1328Ter
XR_001755700.2:n.4573G>T
NM_138270.4:c.4234G>T	NP_612114.2:p.Glu1412Ter
NM_000489.6:c.4348G>T MANE Select	NP_000480.3:p.Glu1450Ter
NM_138270.5:c.4234G>T	NP_612114.2:p.Glu1412Ter