Canonical Allele Identifier: CA413707176

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520847C>A , CM000685.2:g.77520847C>A	GRCh38
NC_000023.10:g.76776325C>A , CM000685.1:g.76776325C>A	GRCh37
NC_000023.9:g.76662981C>A	NCBI36
NG_008838.2:g.270375G>T
NG_008838.3:g.270423G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.7141G>T MANE Select	NP_000480.3:p.Glu2381Ter
ENST00000373344.11:c.7141G>T MANE Select	ENSP00000362441.4:p.Glu2381Ter
NM_000489.4:c.7141G>T	NP_000480.3:p.Glu2381Ter
NM_000489.5:c.7141G>T	NP_000480.3:p.Glu2381Ter
NM_138270.3:c.7027G>T	NP_612114.2:p.Glu2343Ter
NM_138270.4:c.7027G>T	NP_612114.2:p.Glu2343Ter
NM_138270.5:c.7027G>T	NP_612114.2:p.Glu2343Ter
ENST00000373344.9:c.7141G>T	ENSP00000362441.4:p.Glu2381Ter
ENST00000395603.7:c.7027G>T	ENSP00000378967.3:p.Glu2343Ter
ENST00000480283.5:c.*6769G>T	ENSP00000480196.1:n.*6769G>T
ENST00000623706.3:n.5461G>T
ENST00000624766.1:n.372G>T
ENST00000675732.1:c.2239G>T	ENSP00000502598.1:p.Glu747Ter
XM_005262153.3:c.7138G>T	XP_005262210.2:p.Glu2380Ter
XM_005262153.5:c.7138G>T	XP_005262210.2:p.Glu2380Ter
XM_005262154.3:c.7054G>T	XP_005262211.2:p.Glu2352Ter
XM_005262154.5:c.7054G>T	XP_005262211.2:p.Glu2352Ter
XM_005262155.3:c.7024G>T	XP_005262212.2:p.Glu2342Ter
XM_005262155.4:c.7024G>T	XP_005262212.2:p.Glu2342Ter
XM_005262156.3:c.6976G>T	XP_005262213.2:p.Glu2326Ter
XM_005262156.4:c.6976G>T	XP_005262213.2:p.Glu2326Ter
XM_005262157.3:c.6937G>T	XP_005262214.2:p.Glu2313Ter
XM_005262157.5:c.6937G>T	XP_005262214.2:p.Glu2313Ter
XM_006724666.2:c.7024G>T	XP_006724729.1:p.Glu2342Ter
XM_006724666.4:c.7024G>T	XP_006724729.1:p.Glu2342Ter
XM_006724667.2:c.6862G>T	XP_006724730.1:p.Glu2288Ter
XM_006724667.3:c.6862G>T	XP_006724730.1:p.Glu2288Ter
XM_017029601.2:c.7051G>T	XP_016885090.1:p.Glu2351Ter
XM_017029602.1:c.7021G>T	XP_016885091.1:p.Glu2341Ter
XM_017029603.1:c.6973G>T	XP_016885092.1:p.Glu2325Ter
XM_017029604.2:c.6940G>T	XP_016885093.1:p.Glu2314Ter
XM_017029605.1:c.6937G>T	XP_016885094.1:p.Glu2313Ter
XM_017029606.2:c.6910G>T	XP_016885095.1:p.Glu2304Ter
XM_017029607.2:c.6907G>T	XP_016885096.1:p.Glu2303Ter
XM_017029608.2:c.6859G>T	XP_016885097.1:p.Glu2287Ter
XM_017029609.1:c.6823G>T	XP_016885098.1:p.Glu2275Ter
XM_017029610.1:c.6820G>T	XP_016885099.1:p.Glu2274Ter
XM_017029611.1:c.6775G>T	XP_016885100.1:p.Glu2259Ter
XR_001755700.2:n.7440G>T
XR_938400.1:n.8733G>T