Canonical Allele Identifier: CA413708794

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907801C>A (hg19) ; chrX:g.77652311C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652311C>A , CM000685.2:g.77652311C>A	GRCh38
NC_000023.10:g.76907801C>A , CM000685.1:g.76907801C>A	GRCh37
NC_000023.9:g.76794457C>A	NCBI36
NG_008838.2:g.138911G>T
NG_008838.3:g.138959G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4360G>T MANE Select	ENSP00000362441.4:p.Glu1454Ter
ENST00000373344.9:c.4360G>T	ENSP00000362441.4:p.Glu1454Ter
ENST00000395603.7:c.4246G>T	ENSP00000378967.3:p.Glu1416Ter
ENST00000480283.5:c.*3988G>T	ENSP00000480196.1:n.*3988G>T
NM_000489.4:c.4360G>T	NP_000480.3:p.Glu1454Ter
NM_138270.3:c.4246G>T	NP_612114.2:p.Glu1416Ter
XM_005262153.3:c.4357G>T	XP_005262210.2:p.Glu1453Ter
XM_005262154.3:c.4273G>T	XP_005262211.2:p.Glu1425Ter
XM_005262155.3:c.4243G>T	XP_005262212.2:p.Glu1415Ter
XM_005262156.3:c.4195G>T	XP_005262213.2:p.Glu1399Ter
XM_005262157.3:c.4156G>T	XP_005262214.2:p.Glu1386Ter
XM_006724666.2:c.4243G>T	XP_006724729.1:p.Glu1415Ter
XM_006724667.2:c.4081G>T	XP_006724730.1:p.Glu1361Ter
XM_006724668.2:c.4360G>T	XP_006724731.1:p.Glu1454Ter
XR_938400.1:n.4628G>T
NM_000489.5:c.4360G>T	NP_000480.3:p.Glu1454Ter
XM_005262153.5:c.4357G>T	XP_005262210.2:p.Glu1453Ter
XM_005262154.5:c.4273G>T	XP_005262211.2:p.Glu1425Ter
XM_005262155.4:c.4243G>T	XP_005262212.2:p.Glu1415Ter
XM_005262156.4:c.4195G>T	XP_005262213.2:p.Glu1399Ter
XM_005262157.5:c.4156G>T	XP_005262214.2:p.Glu1386Ter
XM_006724666.4:c.4243G>T	XP_006724729.1:p.Glu1415Ter
XM_006724667.3:c.4081G>T	XP_006724730.1:p.Glu1361Ter
XM_006724668.3:c.4360G>T	XP_006724731.1:p.Glu1454Ter
XM_017029601.2:c.4270G>T	XP_016885090.1:p.Glu1424Ter
XM_017029602.1:c.4240G>T	XP_016885091.1:p.Glu1414Ter
XM_017029603.1:c.4192G>T	XP_016885092.1:p.Glu1398Ter
XM_017029604.2:c.4159G>T	XP_016885093.1:p.Glu1387Ter
XM_017029605.1:c.4156G>T	XP_016885094.1:p.Glu1386Ter
XM_017029606.2:c.4129G>T	XP_016885095.1:p.Glu1377Ter
XM_017029607.2:c.4126G>T	XP_016885096.1:p.Glu1376Ter
XM_017029608.2:c.4078G>T	XP_016885097.1:p.Glu1360Ter
XM_017029609.1:c.4042G>T	XP_016885098.1:p.Glu1348Ter
XM_017029610.1:c.4039G>T	XP_016885099.1:p.Glu1347Ter
XM_017029611.1:c.3994G>T	XP_016885100.1:p.Glu1332Ter
XR_001755700.2:n.4585G>T
NM_138270.4:c.4246G>T	NP_612114.2:p.Glu1416Ter
NM_000489.6:c.4360G>T MANE Select	NP_000480.3:p.Glu1454Ter
NM_138270.5:c.4246G>T	NP_612114.2:p.Glu1416Ter