Canonical Allele Identifier: CA413708733

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907791T>A (hg19) ; chrX:g.77652301T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652301T>A , CM000685.2:g.77652301T>A	GRCh38
NC_000023.10:g.76907791T>A , CM000685.1:g.76907791T>A	GRCh37
NC_000023.9:g.76794447T>A	NCBI36
NG_008838.2:g.138921A>T
NG_008838.3:g.138969A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4370A>T MANE Select	ENSP00000362441.4:p.Glu1457Val
ENST00000373344.9:c.4370A>T	ENSP00000362441.4:p.Glu1457Val
ENST00000395603.7:c.4256A>T	ENSP00000378967.3:p.Glu1419Val
ENST00000480283.5:c.*3998A>T	ENSP00000480196.1:n.*3998A>T
NM_000489.4:c.4370A>T	NP_000480.3:p.Glu1457Val
NM_138270.3:c.4256A>T	NP_612114.2:p.Glu1419Val
XM_005262153.3:c.4367A>T	XP_005262210.2:p.Glu1456Val
XM_005262154.3:c.4283A>T	XP_005262211.2:p.Glu1428Val
XM_005262155.3:c.4253A>T	XP_005262212.2:p.Glu1418Val
XM_005262156.3:c.4205A>T	XP_005262213.2:p.Glu1402Val
XM_005262157.3:c.4166A>T	XP_005262214.2:p.Glu1389Val
XM_006724666.2:c.4253A>T	XP_006724729.1:p.Glu1418Val
XM_006724667.2:c.4091A>T	XP_006724730.1:p.Glu1364Val
XM_006724668.2:c.4370A>T	XP_006724731.1:p.Glu1457Val
XR_938400.1:n.4638A>T
NM_000489.5:c.4370A>T	NP_000480.3:p.Glu1457Val
XM_005262153.5:c.4367A>T	XP_005262210.2:p.Glu1456Val
XM_005262154.5:c.4283A>T	XP_005262211.2:p.Glu1428Val
XM_005262155.4:c.4253A>T	XP_005262212.2:p.Glu1418Val
XM_005262156.4:c.4205A>T	XP_005262213.2:p.Glu1402Val
XM_005262157.5:c.4166A>T	XP_005262214.2:p.Glu1389Val
XM_006724666.4:c.4253A>T	XP_006724729.1:p.Glu1418Val
XM_006724667.3:c.4091A>T	XP_006724730.1:p.Glu1364Val
XM_006724668.3:c.4370A>T	XP_006724731.1:p.Glu1457Val
XM_017029601.2:c.4280A>T	XP_016885090.1:p.Glu1427Val
XM_017029602.1:c.4250A>T	XP_016885091.1:p.Glu1417Val
XM_017029603.1:c.4202A>T	XP_016885092.1:p.Glu1401Val
XM_017029604.2:c.4169A>T	XP_016885093.1:p.Glu1390Val
XM_017029605.1:c.4166A>T	XP_016885094.1:p.Glu1389Val
XM_017029606.2:c.4139A>T	XP_016885095.1:p.Glu1380Val
XM_017029607.2:c.4136A>T	XP_016885096.1:p.Glu1379Val
XM_017029608.2:c.4088A>T	XP_016885097.1:p.Glu1363Val
XM_017029609.1:c.4052A>T	XP_016885098.1:p.Glu1351Val
XM_017029610.1:c.4049A>T	XP_016885099.1:p.Glu1350Val
XM_017029611.1:c.4004A>T	XP_016885100.1:p.Glu1335Val
XR_001755700.2:n.4595A>T
NM_138270.4:c.4256A>T	NP_612114.2:p.Glu1419Val
NM_000489.6:c.4370A>T MANE Select	NP_000480.3:p.Glu1457Val
NM_138270.5:c.4256A>T	NP_612114.2:p.Glu1419Val