Canonical Allele Identifier: CA413703832

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77633360G>A , CM000685.2:g.77633360G>A	GRCh38
NC_000023.10:g.76888848G>A , CM000685.1:g.76888848G>A	GRCh37
NC_000023.9:g.76775504G>A	NCBI36
NG_008838.2:g.157862C>T
NG_008838.3:g.157910C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.4981C>T MANE Select	NP_000480.3:p.Arg1661Cys
ENST00000373344.11:c.4981C>T MANE Select	ENSP00000362441.4:p.Arg1661Cys
NM_000489.4:c.4981C>T	NP_000480.3:p.Arg1661Cys
NM_000489.5:c.4981C>T	NP_000480.3:p.Arg1661Cys
NM_138270.3:c.4867C>T	NP_612114.2:p.Arg1623Cys
NM_138270.4:c.4867C>T	NP_612114.2:p.Arg1623Cys
NM_138270.5:c.4867C>T	NP_612114.2:p.Arg1623Cys
ENST00000373344.9:c.4981C>T	ENSP00000362441.4:p.Arg1661Cys
ENST00000395603.7:c.4867C>T	ENSP00000378967.3:p.Arg1623Cys
ENST00000480283.5:c.*4609C>T	ENSP00000480196.1:n.*4609C>T
ENST00000623242.3:c.718C>T
ENST00000624403.1:n.325C>T
ENST00000675732.1:c.79C>T	ENSP00000502598.1:p.Arg27Cys
ENST00000675908.1:n.716C>T
XM_005262153.3:c.4978C>T	XP_005262210.2:p.Arg1660Cys
XM_005262153.5:c.4978C>T	XP_005262210.2:p.Arg1660Cys
XM_005262154.3:c.4894C>T	XP_005262211.2:p.Arg1632Cys
XM_005262154.5:c.4894C>T	XP_005262211.2:p.Arg1632Cys
XM_005262155.3:c.4864C>T	XP_005262212.2:p.Arg1622Cys
XM_005262155.4:c.4864C>T	XP_005262212.2:p.Arg1622Cys
XM_005262156.3:c.4816C>T	XP_005262213.2:p.Arg1606Cys
XM_005262156.4:c.4816C>T	XP_005262213.2:p.Arg1606Cys
XM_005262157.3:c.4777C>T	XP_005262214.2:p.Arg1593Cys
XM_005262157.5:c.4777C>T	XP_005262214.2:p.Arg1593Cys
XM_006724666.2:c.4864C>T	XP_006724729.1:p.Arg1622Cys
XM_006724666.4:c.4864C>T	XP_006724729.1:p.Arg1622Cys
XM_006724667.2:c.4702C>T	XP_006724730.1:p.Arg1568Cys
XM_006724667.3:c.4702C>T	XP_006724730.1:p.Arg1568Cys
XM_006724668.2:c.4981C>T	XP_006724731.1:p.Arg1661Cys
XM_006724668.3:c.4981C>T	XP_006724731.1:p.Arg1661Cys
XM_017029601.2:c.4891C>T	XP_016885090.1:p.Arg1631Cys
XM_017029602.1:c.4861C>T	XP_016885091.1:p.Arg1621Cys
XM_017029603.1:c.4813C>T	XP_016885092.1:p.Arg1605Cys
XM_017029604.2:c.4780C>T	XP_016885093.1:p.Arg1594Cys
XM_017029605.1:c.4777C>T	XP_016885094.1:p.Arg1593Cys
XM_017029606.2:c.4750C>T	XP_016885095.1:p.Arg1584Cys
XM_017029607.2:c.4747C>T	XP_016885096.1:p.Arg1583Cys
XM_017029608.2:c.4699C>T	XP_016885097.1:p.Arg1567Cys
XM_017029609.1:c.4663C>T	XP_016885098.1:p.Arg1555Cys
XM_017029610.1:c.4660C>T	XP_016885099.1:p.Arg1554Cys
XM_017029611.1:c.4615C>T	XP_016885100.1:p.Arg1539Cys
XR_001755700.2:n.5206C>T
XR_938400.1:n.5249C>T