Canonical Allele Identifier: CA10458228

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77684088G>A , CM000685.2:g.77684088G>A	GRCh38
NC_000023.10:g.76939580G>A , CM000685.1:g.76939580G>A	GRCh37
NC_000023.9:g.76826236G>A	NCBI36
NG_008838.2:g.107134C>T
NG_008838.3:g.107182C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.1168C>T MANE Select	NP_000480.3:p.Arg390Cys
ENST00000373344.11:c.1168C>T MANE Select	ENSP00000362441.4:p.Arg390Cys
NM_000489.4:c.1168C>T	NP_000480.3:p.Arg390Cys
NM_000489.5:c.1168C>T	NP_000480.3:p.Arg390Cys
NM_138270.3:c.1054C>T	NP_612114.2:p.Arg352Cys
NM_138270.4:c.1054C>T	NP_612114.2:p.Arg352Cys
NM_138270.5:c.1054C>T	NP_612114.2:p.Arg352Cys
ENST00000373344.9:c.1168C>T	ENSP00000362441.4:p.Arg390Cys
ENST00000395603.7:c.1054C>T	ENSP00000378967.3:p.Arg352Cys
ENST00000480283.5:c.*796C>T	ENSP00000480196.1:n.*796C>T
ENST00000623321.3:c.1003C>T	ENSP00000485127.1:p.Arg335Cys
ENST00000624032.3:c.1168C>T	ENSP00000485253.1:p.Arg390Cys
ENST00000624166.3:c.1051C>T	ENSP00000485103.1:p.Arg351Cys
XM_005262153.3:c.1165C>T	XP_005262210.2:p.Arg389Cys
XM_005262153.5:c.1165C>T	XP_005262210.2:p.Arg389Cys
XM_005262154.3:c.1168C>T	XP_005262211.2:p.Arg390Cys
XM_005262154.5:c.1168C>T	XP_005262211.2:p.Arg390Cys
XM_005262155.3:c.1051C>T	XP_005262212.2:p.Arg351Cys
XM_005262155.4:c.1051C>T	XP_005262212.2:p.Arg351Cys
XM_005262156.3:c.1003C>T	XP_005262213.2:p.Arg335Cys
XM_005262156.4:c.1003C>T	XP_005262213.2:p.Arg335Cys
XM_005262157.3:c.1051C>T	XP_005262214.2:p.Arg351Cys
XM_005262157.5:c.1051C>T	XP_005262214.2:p.Arg351Cys
XM_006724666.2:c.1051C>T	XP_006724729.1:p.Arg351Cys
XM_006724666.4:c.1051C>T	XP_006724729.1:p.Arg351Cys
XM_006724667.2:c.889C>T	XP_006724730.1:p.Arg297Cys
XM_006724667.3:c.889C>T	XP_006724730.1:p.Arg297Cys
XM_006724668.2:c.1168C>T	XP_006724731.1:p.Arg390Cys
XM_006724668.3:c.1168C>T	XP_006724731.1:p.Arg390Cys
XM_017029601.2:c.1165C>T	XP_016885090.1:p.Arg389Cys
XM_017029602.1:c.1048C>T	XP_016885091.1:p.Arg350Cys
XM_017029603.1:c.1000C>T	XP_016885092.1:p.Arg334Cys
XM_017029604.2:c.1054C>T	XP_016885093.1:p.Arg352Cys
XM_017029605.1:c.1051C>T	XP_016885094.1:p.Arg351Cys
XM_017029606.2:c.937C>T	XP_016885095.1:p.Arg313Cys
XM_017029607.2:c.934C>T	XP_016885096.1:p.Arg312Cys
XM_017029608.2:c.886C>T	XP_016885097.1:p.Arg296Cys
XM_017029609.1:c.937C>T	XP_016885098.1:p.Arg313Cys
XM_017029610.1:c.934C>T	XP_016885099.1:p.Arg312Cys
XM_017029611.1:c.889C>T	XP_016885100.1:p.Arg297Cys
XR_001755700.2:n.1393C>T
XR_938400.1:n.1436C>T