Canonical Allele Identifier: CA413708572

Gene: ATRX

Linked Data

• ClinVar Variation Id: 2777451
• ClinVar RCV Id: RCV003624550
• MyVariant Identifiers: chrX:g.76907769T>G (hg19) ; chrX:g.77652279T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652279T>G , CM000685.2:g.77652279T>G	GRCh38
NC_000023.10:g.76907769T>G , CM000685.1:g.76907769T>G	GRCh37
NC_000023.9:g.76794425T>G	NCBI36
NG_008838.2:g.138943A>C
NG_008838.3:g.138991A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4392A>C MANE Select	ENSP00000362441.4:p.Glu1464Asp
ENST00000373344.9:c.4392A>C	ENSP00000362441.4:p.Glu1464Asp
ENST00000395603.7:c.4278A>C	ENSP00000378967.3:p.Glu1426Asp
ENST00000480283.5:c.*4020A>C	ENSP00000480196.1:n.*4020A>C
NM_000489.4:c.4392A>C	NP_000480.3:p.Glu1464Asp
NM_138270.3:c.4278A>C	NP_612114.2:p.Glu1426Asp
XM_005262153.3:c.4389A>C	XP_005262210.2:p.Glu1463Asp
XM_005262154.3:c.4305A>C	XP_005262211.2:p.Glu1435Asp
XM_005262155.3:c.4275A>C	XP_005262212.2:p.Glu1425Asp
XM_005262156.3:c.4227A>C	XP_005262213.2:p.Glu1409Asp
XM_005262157.3:c.4188A>C	XP_005262214.2:p.Glu1396Asp
XM_006724666.2:c.4275A>C	XP_006724729.1:p.Glu1425Asp
XM_006724667.2:c.4113A>C	XP_006724730.1:p.Glu1371Asp
XM_006724668.2:c.4392A>C	XP_006724731.1:p.Glu1464Asp
XR_938400.1:n.4660A>C
NM_000489.5:c.4392A>C	NP_000480.3:p.Glu1464Asp
XM_005262153.5:c.4389A>C	XP_005262210.2:p.Glu1463Asp
XM_005262154.5:c.4305A>C	XP_005262211.2:p.Glu1435Asp
XM_005262155.4:c.4275A>C	XP_005262212.2:p.Glu1425Asp
XM_005262156.4:c.4227A>C	XP_005262213.2:p.Glu1409Asp
XM_005262157.5:c.4188A>C	XP_005262214.2:p.Glu1396Asp
XM_006724666.4:c.4275A>C	XP_006724729.1:p.Glu1425Asp
XM_006724667.3:c.4113A>C	XP_006724730.1:p.Glu1371Asp
XM_006724668.3:c.4392A>C	XP_006724731.1:p.Glu1464Asp
XM_017029601.2:c.4302A>C	XP_016885090.1:p.Glu1434Asp
XM_017029602.1:c.4272A>C	XP_016885091.1:p.Glu1424Asp
XM_017029603.1:c.4224A>C	XP_016885092.1:p.Glu1408Asp
XM_017029604.2:c.4191A>C	XP_016885093.1:p.Glu1397Asp
XM_017029605.1:c.4188A>C	XP_016885094.1:p.Glu1396Asp
XM_017029606.2:c.4161A>C	XP_016885095.1:p.Glu1387Asp
XM_017029607.2:c.4158A>C	XP_016885096.1:p.Glu1386Asp
XM_017029608.2:c.4110A>C	XP_016885097.1:p.Glu1370Asp
XM_017029609.1:c.4074A>C	XP_016885098.1:p.Glu1358Asp
XM_017029610.1:c.4071A>C	XP_016885099.1:p.Glu1357Asp
XM_017029611.1:c.4026A>C	XP_016885100.1:p.Glu1342Asp
XR_001755700.2:n.4617A>C
NM_138270.4:c.4278A>C	NP_612114.2:p.Glu1426Asp
NM_000489.6:c.4392A>C MANE Select	NP_000480.3:p.Glu1464Asp
NM_138270.5:c.4278A>C	NP_612114.2:p.Glu1426Asp