Canonical Allele Identifier: CA413708791

Gene: ATRX

Linked Data

• dbSNP Id: rs2148439757
• MyVariant Identifiers: chrX:g.76907800T>A (hg19) ; chrX:g.77652310T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652310T>A , CM000685.2:g.77652310T>A	GRCh38
NC_000023.10:g.76907800T>A , CM000685.1:g.76907800T>A	GRCh37
NC_000023.9:g.76794456T>A	NCBI36
NG_008838.2:g.138912A>T
NG_008838.3:g.138960A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4361A>T MANE Select	ENSP00000362441.4:p.Glu1454Val
ENST00000373344.9:c.4361A>T	ENSP00000362441.4:p.Glu1454Val
ENST00000395603.7:c.4247A>T	ENSP00000378967.3:p.Glu1416Val
ENST00000480283.5:c.*3989A>T	ENSP00000480196.1:n.*3989A>T
NM_000489.4:c.4361A>T	NP_000480.3:p.Glu1454Val
NM_138270.3:c.4247A>T	NP_612114.2:p.Glu1416Val
XM_005262153.3:c.4358A>T	XP_005262210.2:p.Glu1453Val
XM_005262154.3:c.4274A>T	XP_005262211.2:p.Glu1425Val
XM_005262155.3:c.4244A>T	XP_005262212.2:p.Glu1415Val
XM_005262156.3:c.4196A>T	XP_005262213.2:p.Glu1399Val
XM_005262157.3:c.4157A>T	XP_005262214.2:p.Glu1386Val
XM_006724666.2:c.4244A>T	XP_006724729.1:p.Glu1415Val
XM_006724667.2:c.4082A>T	XP_006724730.1:p.Glu1361Val
XM_006724668.2:c.4361A>T	XP_006724731.1:p.Glu1454Val
XR_938400.1:n.4629A>T
NM_000489.5:c.4361A>T	NP_000480.3:p.Glu1454Val
XM_005262153.5:c.4358A>T	XP_005262210.2:p.Glu1453Val
XM_005262154.5:c.4274A>T	XP_005262211.2:p.Glu1425Val
XM_005262155.4:c.4244A>T	XP_005262212.2:p.Glu1415Val
XM_005262156.4:c.4196A>T	XP_005262213.2:p.Glu1399Val
XM_005262157.5:c.4157A>T	XP_005262214.2:p.Glu1386Val
XM_006724666.4:c.4244A>T	XP_006724729.1:p.Glu1415Val
XM_006724667.3:c.4082A>T	XP_006724730.1:p.Glu1361Val
XM_006724668.3:c.4361A>T	XP_006724731.1:p.Glu1454Val
XM_017029601.2:c.4271A>T	XP_016885090.1:p.Glu1424Val
XM_017029602.1:c.4241A>T	XP_016885091.1:p.Glu1414Val
XM_017029603.1:c.4193A>T	XP_016885092.1:p.Glu1398Val
XM_017029604.2:c.4160A>T	XP_016885093.1:p.Glu1387Val
XM_017029605.1:c.4157A>T	XP_016885094.1:p.Glu1386Val
XM_017029606.2:c.4130A>T	XP_016885095.1:p.Glu1377Val
XM_017029607.2:c.4127A>T	XP_016885096.1:p.Glu1376Val
XM_017029608.2:c.4079A>T	XP_016885097.1:p.Glu1360Val
XM_017029609.1:c.4043A>T	XP_016885098.1:p.Glu1348Val
XM_017029610.1:c.4040A>T	XP_016885099.1:p.Glu1347Val
XM_017029611.1:c.3995A>T	XP_016885100.1:p.Glu1332Val
XR_001755700.2:n.4586A>T
NM_138270.4:c.4247A>T	NP_612114.2:p.Glu1416Val
NM_000489.6:c.4361A>T MANE Select	NP_000480.3:p.Glu1454Val
NM_138270.5:c.4247A>T	NP_612114.2:p.Glu1416Val