Canonical Allele Identifier: CA517376130

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77654098C>T , CM000685.2:g.77654098C>T	GRCh38
NC_000023.10:g.76909588C>T , CM000685.1:g.76909588C>T	GRCh37
NC_000023.9:g.76796244C>T	NCBI36
NG_008838.2:g.137124G>A
NG_008838.3:g.137172G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.4317G>A MANE Select	NP_000480.3:p.Lys1439=
ENST00000373344.11:c.4317G>A MANE Select	ENSP00000362441.4:p.Lys1439=
NM_000489.4:c.4317G>A	NP_000480.3:p.Lys1439=
NM_000489.5:c.4317G>A	NP_000480.3:p.Lys1439=
NM_138270.3:c.4203G>A	NP_612114.2:p.Lys1401=
NM_138270.4:c.4203G>A	NP_612114.2:p.Lys1401=
NM_138270.5:c.4203G>A	NP_612114.2:p.Lys1401=
ENST00000373344.9:c.4317G>A	ENSP00000362441.4:p.Lys1439=
ENST00000395603.7:c.4203G>A	ENSP00000378967.3:p.Lys1401=
ENST00000480283.5:c.*3945G>A	ENSP00000480196.1:n.*3945G>A
XM_005262153.3:c.4314G>A	XP_005262210.2:p.Lys1438=
XM_005262153.5:c.4314G>A	XP_005262210.2:p.Lys1438=
XM_005262154.3:c.4230G>A	XP_005262211.2:p.Lys1410=
XM_005262154.5:c.4230G>A	XP_005262211.2:p.Lys1410=
XM_005262155.3:c.4200G>A	XP_005262212.2:p.Lys1400=
XM_005262155.4:c.4200G>A	XP_005262212.2:p.Lys1400=
XM_005262156.3:c.4152G>A	XP_005262213.2:p.Lys1384=
XM_005262156.4:c.4152G>A	XP_005262213.2:p.Lys1384=
XM_005262157.3:c.4113G>A	XP_005262214.2:p.Lys1371=
XM_005262157.5:c.4113G>A	XP_005262214.2:p.Lys1371=
XM_006724666.2:c.4200G>A	XP_006724729.1:p.Lys1400=
XM_006724666.4:c.4200G>A	XP_006724729.1:p.Lys1400=
XM_006724667.2:c.4038G>A	XP_006724730.1:p.Lys1346=
XM_006724667.3:c.4038G>A	XP_006724730.1:p.Lys1346=
XM_006724668.2:c.4317G>A	XP_006724731.1:p.Lys1439=
XM_006724668.3:c.4317G>A	XP_006724731.1:p.Lys1439=
XM_017029601.2:c.4227G>A	XP_016885090.1:p.Lys1409=
XM_017029602.1:c.4197G>A	XP_016885091.1:p.Lys1399=
XM_017029603.1:c.4149G>A	XP_016885092.1:p.Lys1383=
XM_017029604.2:c.4116G>A	XP_016885093.1:p.Lys1372=
XM_017029605.1:c.4113G>A	XP_016885094.1:p.Lys1371=
XM_017029606.2:c.4086G>A	XP_016885095.1:p.Lys1362=
XM_017029607.2:c.4083G>A	XP_016885096.1:p.Lys1361=
XM_017029608.2:c.4035G>A	XP_016885097.1:p.Lys1345=
XM_017029609.1:c.3999G>A	XP_016885098.1:p.Lys1333=
XM_017029610.1:c.3996G>A	XP_016885099.1:p.Lys1332=
XM_017029611.1:c.3951G>A	XP_016885100.1:p.Lys1317=
XR_001755700.2:n.4542G>A
XR_938400.1:n.4585G>A