Canonical Allele Identifier: CA413709688

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77523308C>T , CM000685.2:g.77523308C>T	GRCh38
NC_000023.10:g.76778786C>T , CM000685.1:g.76778786C>T	GRCh37
NC_000023.9:g.76665442C>T	NCBI36
NG_008838.2:g.267914G>A
NG_008838.3:g.267962G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.6793G>A MANE Select	NP_000480.3:p.Glu2265Lys
ENST00000373344.11:c.6793G>A MANE Select	ENSP00000362441.4:p.Glu2265Lys
NM_000489.4:c.6793G>A	NP_000480.3:p.Glu2265Lys
NM_000489.5:c.6793G>A	NP_000480.3:p.Glu2265Lys
NM_138270.3:c.6679G>A	NP_612114.2:p.Glu2227Lys
NM_138270.4:c.6679G>A	NP_612114.2:p.Glu2227Lys
NM_138270.5:c.6679G>A	NP_612114.2:p.Glu2227Lys
ENST00000373344.9:c.6793G>A	ENSP00000362441.4:p.Glu2265Lys
ENST00000395603.7:c.6679G>A	ENSP00000378967.3:p.Glu2227Lys
ENST00000480283.5:c.*6421G>A	ENSP00000480196.1:n.*6421G>A
ENST00000623706.3:n.3863G>A
ENST00000675732.1:c.1891G>A	ENSP00000502598.1:p.Glu631Lys
XM_005262153.3:c.6790G>A	XP_005262210.2:p.Glu2264Lys
XM_005262153.5:c.6790G>A	XP_005262210.2:p.Glu2264Lys
XM_005262154.3:c.6706G>A	XP_005262211.2:p.Glu2236Lys
XM_005262154.5:c.6706G>A	XP_005262211.2:p.Glu2236Lys
XM_005262155.3:c.6676G>A	XP_005262212.2:p.Glu2226Lys
XM_005262155.4:c.6676G>A	XP_005262212.2:p.Glu2226Lys
XM_005262156.3:c.6628G>A	XP_005262213.2:p.Glu2210Lys
XM_005262156.4:c.6628G>A	XP_005262213.2:p.Glu2210Lys
XM_005262157.3:c.6589G>A	XP_005262214.2:p.Glu2197Lys
XM_005262157.5:c.6589G>A	XP_005262214.2:p.Glu2197Lys
XM_006724666.2:c.6676G>A	XP_006724729.1:p.Glu2226Lys
XM_006724666.4:c.6676G>A	XP_006724729.1:p.Glu2226Lys
XM_006724667.2:c.6514G>A	XP_006724730.1:p.Glu2172Lys
XM_006724667.3:c.6514G>A	XP_006724730.1:p.Glu2172Lys
XM_017029601.2:c.6703G>A	XP_016885090.1:p.Glu2235Lys
XM_017029602.1:c.6673G>A	XP_016885091.1:p.Glu2225Lys
XM_017029603.1:c.6625G>A	XP_016885092.1:p.Glu2209Lys
XM_017029604.2:c.6592G>A	XP_016885093.1:p.Glu2198Lys
XM_017029605.1:c.6589G>A	XP_016885094.1:p.Glu2197Lys
XM_017029606.2:c.6562G>A	XP_016885095.1:p.Glu2188Lys
XM_017029607.2:c.6559G>A	XP_016885096.1:p.Glu2187Lys
XM_017029608.2:c.6511G>A	XP_016885097.1:p.Glu2171Lys
XM_017029609.1:c.6475G>A	XP_016885098.1:p.Glu2159Lys
XM_017029610.1:c.6472G>A	XP_016885099.1:p.Glu2158Lys
XM_017029611.1:c.6427G>A	XP_016885100.1:p.Glu2143Lys
XR_001755700.2:n.7092G>A
XR_938400.1:n.7135G>A