Canonical Allele Identifier: CA413718894

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77684004G>A , CM000685.2:g.77684004G>A	GRCh38
NC_000023.10:g.76939496G>A , CM000685.1:g.76939496G>A	GRCh37
NC_000023.9:g.76826152G>A	NCBI36
NG_008838.2:g.107218C>T
NG_008838.3:g.107266C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.1252C>T MANE Select	NP_000480.3:p.Arg418Ter
ENST00000373344.11:c.1252C>T MANE Select	ENSP00000362441.4:p.Arg418Ter
NM_000489.4:c.1252C>T	NP_000480.3:p.Arg418Ter
NM_000489.5:c.1252C>T	NP_000480.3:p.Arg418Ter
NM_138270.3:c.1138C>T	NP_612114.2:p.Arg380Ter
NM_138270.4:c.1138C>T	NP_612114.2:p.Arg380Ter
NM_138270.5:c.1138C>T	NP_612114.2:p.Arg380Ter
ENST00000373344.9:c.1252C>T	ENSP00000362441.4:p.Arg418Ter
ENST00000395603.7:c.1138C>T	ENSP00000378967.3:p.Arg380Ter
ENST00000480283.5:c.*880C>T	ENSP00000480196.1:n.*880C>T
ENST00000623321.3:c.1087C>T	ENSP00000485127.1:p.Arg363Ter
ENST00000624032.3:c.1252C>T	ENSP00000485253.1:p.Arg418Ter
ENST00000624166.3:c.1135C>T	ENSP00000485103.1:p.Arg379Ter
XM_005262153.3:c.1249C>T	XP_005262210.2:p.Arg417Ter
XM_005262153.5:c.1249C>T	XP_005262210.2:p.Arg417Ter
XM_005262154.3:c.1252C>T	XP_005262211.2:p.Arg418Ter
XM_005262154.5:c.1252C>T	XP_005262211.2:p.Arg418Ter
XM_005262155.3:c.1135C>T	XP_005262212.2:p.Arg379Ter
XM_005262155.4:c.1135C>T	XP_005262212.2:p.Arg379Ter
XM_005262156.3:c.1087C>T	XP_005262213.2:p.Arg363Ter
XM_005262156.4:c.1087C>T	XP_005262213.2:p.Arg363Ter
XM_005262157.3:c.1135C>T	XP_005262214.2:p.Arg379Ter
XM_005262157.5:c.1135C>T	XP_005262214.2:p.Arg379Ter
XM_006724666.2:c.1135C>T	XP_006724729.1:p.Arg379Ter
XM_006724666.4:c.1135C>T	XP_006724729.1:p.Arg379Ter
XM_006724667.2:c.973C>T	XP_006724730.1:p.Arg325Ter
XM_006724667.3:c.973C>T	XP_006724730.1:p.Arg325Ter
XM_006724668.2:c.1252C>T	XP_006724731.1:p.Arg418Ter
XM_006724668.3:c.1252C>T	XP_006724731.1:p.Arg418Ter
XM_017029601.2:c.1249C>T	XP_016885090.1:p.Arg417Ter
XM_017029602.1:c.1132C>T	XP_016885091.1:p.Arg378Ter
XM_017029603.1:c.1084C>T	XP_016885092.1:p.Arg362Ter
XM_017029604.2:c.1138C>T	XP_016885093.1:p.Arg380Ter
XM_017029605.1:c.1135C>T	XP_016885094.1:p.Arg379Ter
XM_017029606.2:c.1021C>T	XP_016885095.1:p.Arg341Ter
XM_017029607.2:c.1018C>T	XP_016885096.1:p.Arg340Ter
XM_017029608.2:c.970C>T	XP_016885097.1:p.Arg324Ter
XM_017029609.1:c.1021C>T	XP_016885098.1:p.Arg341Ter
XM_017029610.1:c.1018C>T	XP_016885099.1:p.Arg340Ter
XM_017029611.1:c.973C>T	XP_016885100.1:p.Arg325Ter
XR_001755700.2:n.1477C>T
XR_938400.1:n.1520C>T