Canonical Allele Identifier: CA517472460

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77683282A>C , CM000685.2:g.77683282A>C	GRCh38
NC_000023.10:g.76938774A>C , CM000685.1:g.76938774A>C	GRCh37
NC_000023.9:g.76825430A>C	NCBI36
NG_008838.2:g.107940T>G
NG_008838.3:g.107988T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.1974T>G MANE Select	NP_000480.3:p.Arg658=
ENST00000373344.11:c.1974T>G MANE Select	ENSP00000362441.4:p.Arg658=
NM_000489.4:c.1974T>G	NP_000480.3:p.Arg658=
NM_000489.5:c.1974T>G	NP_000480.3:p.Arg658=
NM_138270.3:c.1860T>G	NP_612114.2:p.Arg620=
NM_138270.4:c.1860T>G	NP_612114.2:p.Arg620=
NM_138270.5:c.1860T>G	NP_612114.2:p.Arg620=
ENST00000373344.9:c.1974T>G	ENSP00000362441.4:p.Arg658=
ENST00000395603.7:c.1860T>G	ENSP00000378967.3:p.Arg620=
ENST00000480283.5:c.*1602T>G	ENSP00000480196.1:n.*1602T>G
ENST00000624032.3:c.1887T>G	ENSP00000485253.1:p.Arg629=
ENST00000624166.3:c.1770T>G	ENSP00000485103.1:p.Arg590=
XM_005262153.3:c.1971T>G	XP_005262210.2:p.Arg657=
XM_005262153.5:c.1971T>G	XP_005262210.2:p.Arg657=
XM_005262154.3:c.1887T>G	XP_005262211.2:p.Arg629=
XM_005262154.5:c.1887T>G	XP_005262211.2:p.Arg629=
XM_005262155.3:c.1857T>G	XP_005262212.2:p.Arg619=
XM_005262155.4:c.1857T>G	XP_005262212.2:p.Arg619=
XM_005262156.3:c.1809T>G	XP_005262213.2:p.Arg603=
XM_005262156.4:c.1809T>G	XP_005262213.2:p.Arg603=
XM_005262157.3:c.1770T>G	XP_005262214.2:p.Arg590=
XM_005262157.5:c.1770T>G	XP_005262214.2:p.Arg590=
XM_006724666.2:c.1857T>G	XP_006724729.1:p.Arg619=
XM_006724666.4:c.1857T>G	XP_006724729.1:p.Arg619=
XM_006724667.2:c.1695T>G	XP_006724730.1:p.Arg565=
XM_006724667.3:c.1695T>G	XP_006724730.1:p.Arg565=
XM_006724668.2:c.1974T>G	XP_006724731.1:p.Arg658=
XM_006724668.3:c.1974T>G	XP_006724731.1:p.Arg658=
XM_017029601.2:c.1884T>G	XP_016885090.1:p.Arg628=
XM_017029602.1:c.1854T>G	XP_016885091.1:p.Arg618=
XM_017029603.1:c.1806T>G	XP_016885092.1:p.Arg602=
XM_017029604.2:c.1773T>G	XP_016885093.1:p.Arg591=
XM_017029605.1:c.1770T>G	XP_016885094.1:p.Arg590=
XM_017029606.2:c.1743T>G	XP_016885095.1:p.Arg581=
XM_017029607.2:c.1740T>G	XP_016885096.1:p.Arg580=
XM_017029608.2:c.1692T>G	XP_016885097.1:p.Arg564=
XM_017029609.1:c.1656T>G	XP_016885098.1:p.Arg552=
XM_017029610.1:c.1653T>G	XP_016885099.1:p.Arg551=
XM_017029611.1:c.1608T>G	XP_016885100.1:p.Arg536=
XR_001755700.2:n.2199T>G
XR_938400.1:n.2242T>G