Canonical Allele Identifier: CA413700783

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77618886C>T , CM000685.2:g.77618886C>T	GRCh38
NC_000023.10:g.76874354C>T , CM000685.1:g.76874354C>T	GRCh37
NC_000023.9:g.76761010C>T	NCBI36
NG_008838.2:g.172336G>A
NG_008838.3:g.172384G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.5368G>A MANE Select	NP_000480.3:p.Ala1790Thr
ENST00000373344.11:c.5368G>A MANE Select	ENSP00000362441.4:p.Ala1790Thr
NM_000489.4:c.5368G>A	NP_000480.3:p.Ala1790Thr
NM_000489.5:c.5368G>A	NP_000480.3:p.Ala1790Thr
NM_138270.3:c.5254G>A	NP_612114.2:p.Ala1752Thr
NM_138270.4:c.5254G>A	NP_612114.2:p.Ala1752Thr
NM_138270.5:c.5254G>A	NP_612114.2:p.Ala1752Thr
ENST00000373344.9:c.5368G>A	ENSP00000362441.4:p.Ala1790Thr
ENST00000395603.7:c.5254G>A	ENSP00000378967.3:p.Ala1752Thr
ENST00000400866.4:c.349G>A	ENSP00000383663.3:p.Ala117Thr
ENST00000480283.5:c.*4996G>A	ENSP00000480196.1:n.*4996G>A
ENST00000675732.1:c.466G>A	ENSP00000502598.1:p.Ala156Thr
ENST00000675908.1:n.1103G>A
XM_005262153.3:c.5365G>A	XP_005262210.2:p.Ala1789Thr
XM_005262153.5:c.5365G>A	XP_005262210.2:p.Ala1789Thr
XM_005262154.3:c.5281G>A	XP_005262211.2:p.Ala1761Thr
XM_005262154.5:c.5281G>A	XP_005262211.2:p.Ala1761Thr
XM_005262155.3:c.5251G>A	XP_005262212.2:p.Ala1751Thr
XM_005262155.4:c.5251G>A	XP_005262212.2:p.Ala1751Thr
XM_005262156.3:c.5203G>A	XP_005262213.2:p.Ala1735Thr
XM_005262156.4:c.5203G>A	XP_005262213.2:p.Ala1735Thr
XM_005262157.3:c.5164G>A	XP_005262214.2:p.Ala1722Thr
XM_005262157.5:c.5164G>A	XP_005262214.2:p.Ala1722Thr
XM_006724666.2:c.5251G>A	XP_006724729.1:p.Ala1751Thr
XM_006724666.4:c.5251G>A	XP_006724729.1:p.Ala1751Thr
XM_006724667.2:c.5089G>A	XP_006724730.1:p.Ala1697Thr
XM_006724667.3:c.5089G>A	XP_006724730.1:p.Ala1697Thr
XM_006724668.2:c.5368G>A	XP_006724731.1:p.Ala1790Thr
XM_006724668.3:c.5368G>A	XP_006724731.1:p.Ala1790Thr
XM_017029601.2:c.5278G>A	XP_016885090.1:p.Ala1760Thr
XM_017029602.1:c.5248G>A	XP_016885091.1:p.Ala1750Thr
XM_017029603.1:c.5200G>A	XP_016885092.1:p.Ala1734Thr
XM_017029604.2:c.5167G>A	XP_016885093.1:p.Ala1723Thr
XM_017029605.1:c.5164G>A	XP_016885094.1:p.Ala1722Thr
XM_017029606.2:c.5137G>A	XP_016885095.1:p.Ala1713Thr
XM_017029607.2:c.5134G>A	XP_016885096.1:p.Ala1712Thr
XM_017029608.2:c.5086G>A	XP_016885097.1:p.Ala1696Thr
XM_017029609.1:c.5050G>A	XP_016885098.1:p.Ala1684Thr
XM_017029610.1:c.5047G>A	XP_016885099.1:p.Ala1683Thr
XM_017029611.1:c.5002G>A	XP_016885100.1:p.Ala1668Thr
XR_001755700.2:n.5593G>A
XR_938400.1:n.5636G>A