Canonical Allele Identifier: CA413708872

Gene: ATRX

Linked Data

• ClinVar Variation Id: 2439416
• ClinVar RCV Id: RCV003143685
• MyVariant Identifiers: chrX:g.76907813C>G (hg19) ; chrX:g.77652323C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652323C>G , CM000685.2:g.77652323C>G	GRCh38
NC_000023.10:g.76907813C>G , CM000685.1:g.76907813C>G	GRCh37
NC_000023.9:g.76794469C>G	NCBI36
NG_008838.2:g.138899G>C
NG_008838.3:g.138947G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4348G>C MANE Select	ENSP00000362441.4:p.Glu1450Gln
ENST00000373344.9:c.4348G>C	ENSP00000362441.4:p.Glu1450Gln
ENST00000395603.7:c.4234G>C	ENSP00000378967.3:p.Glu1412Gln
ENST00000480283.5:c.*3976G>C	ENSP00000480196.1:n.*3976G>C
NM_000489.4:c.4348G>C	NP_000480.3:p.Glu1450Gln
NM_138270.3:c.4234G>C	NP_612114.2:p.Glu1412Gln
XM_005262153.3:c.4345G>C	XP_005262210.2:p.Glu1449Gln
XM_005262154.3:c.4261G>C	XP_005262211.2:p.Glu1421Gln
XM_005262155.3:c.4231G>C	XP_005262212.2:p.Glu1411Gln
XM_005262156.3:c.4183G>C	XP_005262213.2:p.Glu1395Gln
XM_005262157.3:c.4144G>C	XP_005262214.2:p.Glu1382Gln
XM_006724666.2:c.4231G>C	XP_006724729.1:p.Glu1411Gln
XM_006724667.2:c.4069G>C	XP_006724730.1:p.Glu1357Gln
XM_006724668.2:c.4348G>C	XP_006724731.1:p.Glu1450Gln
XR_938400.1:n.4616G>C
NM_000489.5:c.4348G>C	NP_000480.3:p.Glu1450Gln
XM_005262153.5:c.4345G>C	XP_005262210.2:p.Glu1449Gln
XM_005262154.5:c.4261G>C	XP_005262211.2:p.Glu1421Gln
XM_005262155.4:c.4231G>C	XP_005262212.2:p.Glu1411Gln
XM_005262156.4:c.4183G>C	XP_005262213.2:p.Glu1395Gln
XM_005262157.5:c.4144G>C	XP_005262214.2:p.Glu1382Gln
XM_006724666.4:c.4231G>C	XP_006724729.1:p.Glu1411Gln
XM_006724667.3:c.4069G>C	XP_006724730.1:p.Glu1357Gln
XM_006724668.3:c.4348G>C	XP_006724731.1:p.Glu1450Gln
XM_017029601.2:c.4258G>C	XP_016885090.1:p.Glu1420Gln
XM_017029602.1:c.4228G>C	XP_016885091.1:p.Glu1410Gln
XM_017029603.1:c.4180G>C	XP_016885092.1:p.Glu1394Gln
XM_017029604.2:c.4147G>C	XP_016885093.1:p.Glu1383Gln
XM_017029605.1:c.4144G>C	XP_016885094.1:p.Glu1382Gln
XM_017029606.2:c.4117G>C	XP_016885095.1:p.Glu1373Gln
XM_017029607.2:c.4114G>C	XP_016885096.1:p.Glu1372Gln
XM_017029608.2:c.4066G>C	XP_016885097.1:p.Glu1356Gln
XM_017029609.1:c.4030G>C	XP_016885098.1:p.Glu1344Gln
XM_017029610.1:c.4027G>C	XP_016885099.1:p.Glu1343Gln
XM_017029611.1:c.3982G>C	XP_016885100.1:p.Glu1328Gln
XR_001755700.2:n.4573G>C
NM_138270.4:c.4234G>C	NP_612114.2:p.Glu1412Gln
NM_000489.6:c.4348G>C MANE Select	NP_000480.3:p.Glu1450Gln
NM_138270.5:c.4234G>C	NP_612114.2:p.Glu1412Gln