Canonical Allele Identifier: CA413708992

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907833T>A (hg19) ; chrX:g.77652343T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652343T>A , CM000685.2:g.77652343T>A	GRCh38
NC_000023.10:g.76907833T>A , CM000685.1:g.76907833T>A	GRCh37
NC_000023.9:g.76794489T>A	NCBI36
NG_008838.2:g.138879A>T
NG_008838.3:g.138927A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4328A>T MANE Select	ENSP00000362441.4:p.Glu1443Val
ENST00000373344.9:c.4328A>T	ENSP00000362441.4:p.Glu1443Val
ENST00000395603.7:c.4214A>T	ENSP00000378967.3:p.Glu1405Val
ENST00000480283.5:c.*3956A>T	ENSP00000480196.1:n.*3956A>T
NM_000489.4:c.4328A>T	NP_000480.3:p.Glu1443Val
NM_138270.3:c.4214A>T	NP_612114.2:p.Glu1405Val
XM_005262153.3:c.4325A>T	XP_005262210.2:p.Glu1442Val
XM_005262154.3:c.4241A>T	XP_005262211.2:p.Glu1414Val
XM_005262155.3:c.4211A>T	XP_005262212.2:p.Glu1404Val
XM_005262156.3:c.4163A>T	XP_005262213.2:p.Glu1388Val
XM_005262157.3:c.4124A>T	XP_005262214.2:p.Glu1375Val
XM_006724666.2:c.4211A>T	XP_006724729.1:p.Glu1404Val
XM_006724667.2:c.4049A>T	XP_006724730.1:p.Glu1350Val
XM_006724668.2:c.4328A>T	XP_006724731.1:p.Glu1443Val
XR_938400.1:n.4596A>T
NM_000489.5:c.4328A>T	NP_000480.3:p.Glu1443Val
XM_005262153.5:c.4325A>T	XP_005262210.2:p.Glu1442Val
XM_005262154.5:c.4241A>T	XP_005262211.2:p.Glu1414Val
XM_005262155.4:c.4211A>T	XP_005262212.2:p.Glu1404Val
XM_005262156.4:c.4163A>T	XP_005262213.2:p.Glu1388Val
XM_005262157.5:c.4124A>T	XP_005262214.2:p.Glu1375Val
XM_006724666.4:c.4211A>T	XP_006724729.1:p.Glu1404Val
XM_006724667.3:c.4049A>T	XP_006724730.1:p.Glu1350Val
XM_006724668.3:c.4328A>T	XP_006724731.1:p.Glu1443Val
XM_017029601.2:c.4238A>T	XP_016885090.1:p.Glu1413Val
XM_017029602.1:c.4208A>T	XP_016885091.1:p.Glu1403Val
XM_017029603.1:c.4160A>T	XP_016885092.1:p.Glu1387Val
XM_017029604.2:c.4127A>T	XP_016885093.1:p.Glu1376Val
XM_017029605.1:c.4124A>T	XP_016885094.1:p.Glu1375Val
XM_017029606.2:c.4097A>T	XP_016885095.1:p.Glu1366Val
XM_017029607.2:c.4094A>T	XP_016885096.1:p.Glu1365Val
XM_017029608.2:c.4046A>T	XP_016885097.1:p.Glu1349Val
XM_017029609.1:c.4010A>T	XP_016885098.1:p.Glu1337Val
XM_017029610.1:c.4007A>T	XP_016885099.1:p.Glu1336Val
XM_017029611.1:c.3962A>T	XP_016885100.1:p.Glu1321Val
XR_001755700.2:n.4553A>T
NM_138270.4:c.4214A>T	NP_612114.2:p.Glu1405Val
NM_000489.6:c.4328A>T MANE Select	NP_000480.3:p.Glu1443Val
NM_138270.5:c.4214A>T	NP_612114.2:p.Glu1405Val