Canonical Allele Identifier: CA10458149

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77683376C>T , CM000685.2:g.77683376C>T	GRCh38
NC_000023.10:g.76938868C>T , CM000685.1:g.76938868C>T	GRCh37
NC_000023.9:g.76825524C>T	NCBI36
NG_008838.2:g.107846G>A
NG_008838.3:g.107894G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.1880G>A MANE Select	NP_000480.3:p.Cys627Tyr
ENST00000373344.11:c.1880G>A MANE Select	ENSP00000362441.4:p.Cys627Tyr
NM_000489.4:c.1880G>A	NP_000480.3:p.Cys627Tyr
NM_000489.5:c.1880G>A	NP_000480.3:p.Cys627Tyr
NM_138270.3:c.1766G>A	NP_612114.2:p.Cys589Tyr
NM_138270.4:c.1766G>A	NP_612114.2:p.Cys589Tyr
NM_138270.5:c.1766G>A	NP_612114.2:p.Cys589Tyr
ENST00000373344.9:c.1880G>A	ENSP00000362441.4:p.Cys627Tyr
ENST00000395603.7:c.1766G>A	ENSP00000378967.3:p.Cys589Tyr
ENST00000480283.5:c.*1508G>A	ENSP00000480196.1:n.*1508G>A
ENST00000624032.3:c.1793G>A	ENSP00000485253.1:p.Cys598Tyr
ENST00000624166.3:c.1676G>A	ENSP00000485103.1:p.Cys559Tyr
XM_005262153.3:c.1877G>A	XP_005262210.2:p.Cys626Tyr
XM_005262153.5:c.1877G>A	XP_005262210.2:p.Cys626Tyr
XM_005262154.3:c.1793G>A	XP_005262211.2:p.Cys598Tyr
XM_005262154.5:c.1793G>A	XP_005262211.2:p.Cys598Tyr
XM_005262155.3:c.1763G>A	XP_005262212.2:p.Cys588Tyr
XM_005262155.4:c.1763G>A	XP_005262212.2:p.Cys588Tyr
XM_005262156.3:c.1715G>A	XP_005262213.2:p.Cys572Tyr
XM_005262156.4:c.1715G>A	XP_005262213.2:p.Cys572Tyr
XM_005262157.3:c.1676G>A	XP_005262214.2:p.Cys559Tyr
XM_005262157.5:c.1676G>A	XP_005262214.2:p.Cys559Tyr
XM_006724666.2:c.1763G>A	XP_006724729.1:p.Cys588Tyr
XM_006724666.4:c.1763G>A	XP_006724729.1:p.Cys588Tyr
XM_006724667.2:c.1601G>A	XP_006724730.1:p.Cys534Tyr
XM_006724667.3:c.1601G>A	XP_006724730.1:p.Cys534Tyr
XM_006724668.2:c.1880G>A	XP_006724731.1:p.Cys627Tyr
XM_006724668.3:c.1880G>A	XP_006724731.1:p.Cys627Tyr
XM_017029601.2:c.1790G>A	XP_016885090.1:p.Cys597Tyr
XM_017029602.1:c.1760G>A	XP_016885091.1:p.Cys587Tyr
XM_017029603.1:c.1712G>A	XP_016885092.1:p.Cys571Tyr
XM_017029604.2:c.1679G>A	XP_016885093.1:p.Cys560Tyr
XM_017029605.1:c.1676G>A	XP_016885094.1:p.Cys559Tyr
XM_017029606.2:c.1649G>A	XP_016885095.1:p.Cys550Tyr
XM_017029607.2:c.1646G>A	XP_016885096.1:p.Cys549Tyr
XM_017029608.2:c.1598G>A	XP_016885097.1:p.Cys533Tyr
XM_017029609.1:c.1562G>A	XP_016885098.1:p.Cys521Tyr
XM_017029610.1:c.1559G>A	XP_016885099.1:p.Cys520Tyr
XM_017029611.1:c.1514G>A	XP_016885100.1:p.Cys505Tyr
XR_001755700.2:n.2105G>A
XR_938400.1:n.2148G>A