Canonical Allele Identifier: CA413717622

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77683740G>A , CM000685.2:g.77683740G>A	GRCh38
NC_000023.10:g.76939232G>A , CM000685.1:g.76939232G>A	GRCh37
NC_000023.9:g.76825888G>A	NCBI36
NG_008838.2:g.107482C>T
NG_008838.3:g.107530C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.1516C>T MANE Select	NP_000480.3:p.Pro506Ser
ENST00000373344.11:c.1516C>T MANE Select	ENSP00000362441.4:p.Pro506Ser
NM_000489.4:c.1516C>T	NP_000480.3:p.Pro506Ser
NM_000489.5:c.1516C>T	NP_000480.3:p.Pro506Ser
NM_138270.3:c.1402C>T	NP_612114.2:p.Pro468Ser
NM_138270.4:c.1402C>T	NP_612114.2:p.Pro468Ser
NM_138270.5:c.1402C>T	NP_612114.2:p.Pro468Ser
ENST00000373344.9:c.1516C>T	ENSP00000362441.4:p.Pro506Ser
ENST00000395603.7:c.1402C>T	ENSP00000378967.3:p.Pro468Ser
ENST00000480283.5:c.*1144C>T	ENSP00000480196.1:n.*1144C>T
ENST00000623321.3:c.1351C>T	ENSP00000485127.1:p.Pro451Ser
ENST00000624032.3:c.1516C>T	ENSP00000485253.1:p.Pro506Ser
ENST00000624166.3:c.1399C>T	ENSP00000485103.1:p.Pro467Ser
XM_005262153.3:c.1513C>T	XP_005262210.2:p.Pro505Ser
XM_005262153.5:c.1513C>T	XP_005262210.2:p.Pro505Ser
XM_005262154.3:c.1516C>T	XP_005262211.2:p.Pro506Ser
XM_005262154.5:c.1516C>T	XP_005262211.2:p.Pro506Ser
XM_005262155.3:c.1399C>T	XP_005262212.2:p.Pro467Ser
XM_005262155.4:c.1399C>T	XP_005262212.2:p.Pro467Ser
XM_005262156.3:c.1351C>T	XP_005262213.2:p.Pro451Ser
XM_005262156.4:c.1351C>T	XP_005262213.2:p.Pro451Ser
XM_005262157.3:c.1399C>T	XP_005262214.2:p.Pro467Ser
XM_005262157.5:c.1399C>T	XP_005262214.2:p.Pro467Ser
XM_006724666.2:c.1399C>T	XP_006724729.1:p.Pro467Ser
XM_006724666.4:c.1399C>T	XP_006724729.1:p.Pro467Ser
XM_006724667.2:c.1237C>T	XP_006724730.1:p.Pro413Ser
XM_006724667.3:c.1237C>T	XP_006724730.1:p.Pro413Ser
XM_006724668.2:c.1516C>T	XP_006724731.1:p.Pro506Ser
XM_006724668.3:c.1516C>T	XP_006724731.1:p.Pro506Ser
XM_017029601.2:c.1513C>T	XP_016885090.1:p.Pro505Ser
XM_017029602.1:c.1396C>T	XP_016885091.1:p.Pro466Ser
XM_017029603.1:c.1348C>T	XP_016885092.1:p.Pro450Ser
XM_017029604.2:c.1402C>T	XP_016885093.1:p.Pro468Ser
XM_017029605.1:c.1399C>T	XP_016885094.1:p.Pro467Ser
XM_017029606.2:c.1285C>T	XP_016885095.1:p.Pro429Ser
XM_017029607.2:c.1282C>T	XP_016885096.1:p.Pro428Ser
XM_017029608.2:c.1234C>T	XP_016885097.1:p.Pro412Ser
XM_017029609.1:c.1285C>T	XP_016885098.1:p.Pro429Ser
XM_017029610.1:c.1282C>T	XP_016885099.1:p.Pro428Ser
XM_017029611.1:c.1237C>T	XP_016885100.1:p.Pro413Ser
XR_001755700.2:n.1741C>T
XR_938400.1:n.1784C>T