Canonical Allele Identifier: CA413700215

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77616637G>C , CM000685.2:g.77616637G>C	GRCh38
NC_000023.10:g.76872105G>C , CM000685.1:g.76872105G>C	GRCh37
NC_000023.9:g.76758761G>C	NCBI36
NG_008838.2:g.174585C>G
NG_008838.3:g.174633C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.5542C>G MANE Select	NP_000480.3:p.Gln1848Glu
ENST00000373344.11:c.5542C>G MANE Select	ENSP00000362441.4:p.Gln1848Glu
NM_000489.4:c.5542C>G	NP_000480.3:p.Gln1848Glu
NM_000489.5:c.5542C>G	NP_000480.3:p.Gln1848Glu
NM_138270.3:c.5428C>G	NP_612114.2:p.Gln1810Glu
NM_138270.4:c.5428C>G	NP_612114.2:p.Gln1810Glu
NM_138270.5:c.5428C>G	NP_612114.2:p.Gln1810Glu
ENST00000373344.9:c.5542C>G	ENSP00000362441.4:p.Gln1848Glu
ENST00000395603.7:c.5428C>G	ENSP00000378967.3:p.Gln1810Glu
ENST00000400866.4:c.523C>G	ENSP00000383663.3:p.Gln175Glu
ENST00000480283.5:c.*5170C>G	ENSP00000480196.1:n.*5170C>G
ENST00000675732.1:c.640C>G	ENSP00000502598.1:p.Gln214Glu
ENST00000675908.1:n.1277C>G
XM_005262153.3:c.5539C>G	XP_005262210.2:p.Gln1847Glu
XM_005262153.5:c.5539C>G	XP_005262210.2:p.Gln1847Glu
XM_005262154.3:c.5455C>G	XP_005262211.2:p.Gln1819Glu
XM_005262154.5:c.5455C>G	XP_005262211.2:p.Gln1819Glu
XM_005262155.3:c.5425C>G	XP_005262212.2:p.Gln1809Glu
XM_005262155.4:c.5425C>G	XP_005262212.2:p.Gln1809Glu
XM_005262156.3:c.5377C>G	XP_005262213.2:p.Gln1793Glu
XM_005262156.4:c.5377C>G	XP_005262213.2:p.Gln1793Glu
XM_005262157.3:c.5338C>G	XP_005262214.2:p.Gln1780Glu
XM_005262157.5:c.5338C>G	XP_005262214.2:p.Gln1780Glu
XM_006724666.2:c.5425C>G	XP_006724729.1:p.Gln1809Glu
XM_006724666.4:c.5425C>G	XP_006724729.1:p.Gln1809Glu
XM_006724667.2:c.5263C>G	XP_006724730.1:p.Gln1755Glu
XM_006724667.3:c.5263C>G	XP_006724730.1:p.Gln1755Glu
XM_006724668.2:c.5542C>G	XP_006724731.1:p.Gln1848Glu
XM_006724668.3:c.5542C>G	XP_006724731.1:p.Gln1848Glu
XM_017029601.2:c.5452C>G	XP_016885090.1:p.Gln1818Glu
XM_017029602.1:c.5422C>G	XP_016885091.1:p.Gln1808Glu
XM_017029603.1:c.5374C>G	XP_016885092.1:p.Gln1792Glu
XM_017029604.2:c.5341C>G	XP_016885093.1:p.Gln1781Glu
XM_017029605.1:c.5338C>G	XP_016885094.1:p.Gln1780Glu
XM_017029606.2:c.5311C>G	XP_016885095.1:p.Gln1771Glu
XM_017029607.2:c.5308C>G	XP_016885096.1:p.Gln1770Glu
XM_017029608.2:c.5260C>G	XP_016885097.1:p.Gln1754Glu
XM_017029609.1:c.5224C>G	XP_016885098.1:p.Gln1742Glu
XM_017029610.1:c.5221C>G	XP_016885099.1:p.Gln1741Glu
XM_017029611.1:c.5176C>G	XP_016885100.1:p.Gln1726Glu
XR_001755700.2:n.5767C>G
XR_938400.1:n.5810C>G