Canonical Allele Identifier: CA413708931

Gene: ATRX

Linked Data

• dbSNP Id: rs1211312426
• MyVariant Identifiers: chrX:g.76907823C>A (hg19) ; chrX:g.77652333C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652333C>A , CM000685.2:g.77652333C>A	GRCh38
NC_000023.10:g.76907823C>A , CM000685.1:g.76907823C>A	GRCh37
NC_000023.9:g.76794479C>A	NCBI36
NG_008838.2:g.138889G>T
NG_008838.3:g.138937G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4338G>T MANE Select	ENSP00000362441.4:p.Glu1446Asp
ENST00000373344.9:c.4338G>T	ENSP00000362441.4:p.Glu1446Asp
ENST00000395603.7:c.4224G>T	ENSP00000378967.3:p.Glu1408Asp
ENST00000480283.5:c.*3966G>T	ENSP00000480196.1:n.*3966G>T
NM_000489.4:c.4338G>T	NP_000480.3:p.Glu1446Asp
NM_138270.3:c.4224G>T	NP_612114.2:p.Glu1408Asp
XM_005262153.3:c.4335G>T	XP_005262210.2:p.Glu1445Asp
XM_005262154.3:c.4251G>T	XP_005262211.2:p.Glu1417Asp
XM_005262155.3:c.4221G>T	XP_005262212.2:p.Glu1407Asp
XM_005262156.3:c.4173G>T	XP_005262213.2:p.Glu1391Asp
XM_005262157.3:c.4134G>T	XP_005262214.2:p.Glu1378Asp
XM_006724666.2:c.4221G>T	XP_006724729.1:p.Glu1407Asp
XM_006724667.2:c.4059G>T	XP_006724730.1:p.Glu1353Asp
XM_006724668.2:c.4338G>T	XP_006724731.1:p.Glu1446Asp
XR_938400.1:n.4606G>T
NM_000489.5:c.4338G>T	NP_000480.3:p.Glu1446Asp
XM_005262153.5:c.4335G>T	XP_005262210.2:p.Glu1445Asp
XM_005262154.5:c.4251G>T	XP_005262211.2:p.Glu1417Asp
XM_005262155.4:c.4221G>T	XP_005262212.2:p.Glu1407Asp
XM_005262156.4:c.4173G>T	XP_005262213.2:p.Glu1391Asp
XM_005262157.5:c.4134G>T	XP_005262214.2:p.Glu1378Asp
XM_006724666.4:c.4221G>T	XP_006724729.1:p.Glu1407Asp
XM_006724667.3:c.4059G>T	XP_006724730.1:p.Glu1353Asp
XM_006724668.3:c.4338G>T	XP_006724731.1:p.Glu1446Asp
XM_017029601.2:c.4248G>T	XP_016885090.1:p.Glu1416Asp
XM_017029602.1:c.4218G>T	XP_016885091.1:p.Glu1406Asp
XM_017029603.1:c.4170G>T	XP_016885092.1:p.Glu1390Asp
XM_017029604.2:c.4137G>T	XP_016885093.1:p.Glu1379Asp
XM_017029605.1:c.4134G>T	XP_016885094.1:p.Glu1378Asp
XM_017029606.2:c.4107G>T	XP_016885095.1:p.Glu1369Asp
XM_017029607.2:c.4104G>T	XP_016885096.1:p.Glu1368Asp
XM_017029608.2:c.4056G>T	XP_016885097.1:p.Glu1352Asp
XM_017029609.1:c.4020G>T	XP_016885098.1:p.Glu1340Asp
XM_017029610.1:c.4017G>T	XP_016885099.1:p.Glu1339Asp
XM_017029611.1:c.3972G>T	XP_016885100.1:p.Glu1324Asp
XR_001755700.2:n.4563G>T
NM_138270.4:c.4224G>T	NP_612114.2:p.Glu1408Asp
NM_000489.6:c.4338G>T MANE Select	NP_000480.3:p.Glu1446Asp
NM_138270.5:c.4224G>T	NP_612114.2:p.Glu1408Asp