Canonical Allele Identifier: CA413706532

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77681834C>T , CM000685.2:g.77681834C>T	GRCh38
NC_000023.10:g.76937326C>T , CM000685.1:g.76937326C>T	GRCh37
NC_000023.9:g.76823982C>T	NCBI36
NG_008838.2:g.109388G>A
NG_008838.3:g.109436G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.3422G>A MANE Select	NP_000480.3:p.Ser1141Asn
ENST00000373344.11:c.3422G>A MANE Select	ENSP00000362441.4:p.Ser1141Asn
NM_000489.4:c.3422G>A	NP_000480.3:p.Ser1141Asn
NM_000489.5:c.3422G>A	NP_000480.3:p.Ser1141Asn
NM_138270.3:c.3308G>A	NP_612114.2:p.Ser1103Asn
NM_138270.4:c.3308G>A	NP_612114.2:p.Ser1103Asn
NM_138270.5:c.3308G>A	NP_612114.2:p.Ser1103Asn
ENST00000373344.9:c.3422G>A	ENSP00000362441.4:p.Ser1141Asn
ENST00000395603.7:c.3308G>A	ENSP00000378967.3:p.Ser1103Asn
ENST00000480283.5:c.*3050G>A	ENSP00000480196.1:n.*3050G>A
ENST00000493470.2:c.308G>A	ENSP00000485408.1:p.Ser103Asn
ENST00000624166.3:c.3218G>A	ENSP00000485103.1:p.Ser1073Asn
XM_005262153.3:c.3419G>A	XP_005262210.2:p.Ser1140Asn
XM_005262153.5:c.3419G>A	XP_005262210.2:p.Ser1140Asn
XM_005262154.3:c.3335G>A	XP_005262211.2:p.Ser1112Asn
XM_005262154.5:c.3335G>A	XP_005262211.2:p.Ser1112Asn
XM_005262155.3:c.3305G>A	XP_005262212.2:p.Ser1102Asn
XM_005262155.4:c.3305G>A	XP_005262212.2:p.Ser1102Asn
XM_005262156.3:c.3257G>A	XP_005262213.2:p.Ser1086Asn
XM_005262156.4:c.3257G>A	XP_005262213.2:p.Ser1086Asn
XM_005262157.3:c.3218G>A	XP_005262214.2:p.Ser1073Asn
XM_005262157.5:c.3218G>A	XP_005262214.2:p.Ser1073Asn
XM_006724666.2:c.3305G>A	XP_006724729.1:p.Ser1102Asn
XM_006724666.4:c.3305G>A	XP_006724729.1:p.Ser1102Asn
XM_006724667.2:c.3143G>A	XP_006724730.1:p.Ser1048Asn
XM_006724667.3:c.3143G>A	XP_006724730.1:p.Ser1048Asn
XM_006724668.2:c.3422G>A	XP_006724731.1:p.Ser1141Asn
XM_006724668.3:c.3422G>A	XP_006724731.1:p.Ser1141Asn
XM_017029601.2:c.3332G>A	XP_016885090.1:p.Ser1111Asn
XM_017029602.1:c.3302G>A	XP_016885091.1:p.Ser1101Asn
XM_017029603.1:c.3254G>A	XP_016885092.1:p.Ser1085Asn
XM_017029604.2:c.3221G>A	XP_016885093.1:p.Ser1074Asn
XM_017029605.1:c.3218G>A	XP_016885094.1:p.Ser1073Asn
XM_017029606.2:c.3191G>A	XP_016885095.1:p.Ser1064Asn
XM_017029607.2:c.3188G>A	XP_016885096.1:p.Ser1063Asn
XM_017029608.2:c.3140G>A	XP_016885097.1:p.Ser1047Asn
XM_017029609.1:c.3104G>A	XP_016885098.1:p.Ser1035Asn
XM_017029610.1:c.3101G>A	XP_016885099.1:p.Ser1034Asn
XM_017029611.1:c.3056G>A	XP_016885100.1:p.Ser1019Asn
XR_001755700.2:n.3647G>A
XR_938400.1:n.3690G>A