Canonical Allele Identifier: CA413708971

Gene: ATRX

Linked Data

• dbSNP Id: rs2148440421
• COSMIC: COSM5878325 ; COSM5878326
• MyVariant Identifiers: chrX:g.76907828C>T (hg19) ; chrX:g.77652338C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652338C>T , CM000685.2:g.77652338C>T	GRCh38
NC_000023.10:g.76907828C>T , CM000685.1:g.76907828C>T	GRCh37
NC_000023.9:g.76794484C>T	NCBI36
NG_008838.2:g.138884G>A
NG_008838.3:g.138932G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4333G>A MANE Select	ENSP00000362441.4:p.Glu1445Lys
ENST00000373344.9:c.4333G>A	ENSP00000362441.4:p.Glu1445Lys
ENST00000395603.7:c.4219G>A	ENSP00000378967.3:p.Glu1407Lys
ENST00000480283.5:c.*3961G>A	ENSP00000480196.1:n.*3961G>A
NM_000489.4:c.4333G>A	NP_000480.3:p.Glu1445Lys
NM_138270.3:c.4219G>A	NP_612114.2:p.Glu1407Lys
XM_005262153.3:c.4330G>A	XP_005262210.2:p.Glu1444Lys
XM_005262154.3:c.4246G>A	XP_005262211.2:p.Glu1416Lys
XM_005262155.3:c.4216G>A	XP_005262212.2:p.Glu1406Lys
XM_005262156.3:c.4168G>A	XP_005262213.2:p.Glu1390Lys
XM_005262157.3:c.4129G>A	XP_005262214.2:p.Glu1377Lys
XM_006724666.2:c.4216G>A	XP_006724729.1:p.Glu1406Lys
XM_006724667.2:c.4054G>A	XP_006724730.1:p.Glu1352Lys
XM_006724668.2:c.4333G>A	XP_006724731.1:p.Glu1445Lys
XR_938400.1:n.4601G>A
NM_000489.5:c.4333G>A	NP_000480.3:p.Glu1445Lys
XM_005262153.5:c.4330G>A	XP_005262210.2:p.Glu1444Lys
XM_005262154.5:c.4246G>A	XP_005262211.2:p.Glu1416Lys
XM_005262155.4:c.4216G>A	XP_005262212.2:p.Glu1406Lys
XM_005262156.4:c.4168G>A	XP_005262213.2:p.Glu1390Lys
XM_005262157.5:c.4129G>A	XP_005262214.2:p.Glu1377Lys
XM_006724666.4:c.4216G>A	XP_006724729.1:p.Glu1406Lys
XM_006724667.3:c.4054G>A	XP_006724730.1:p.Glu1352Lys
XM_006724668.3:c.4333G>A	XP_006724731.1:p.Glu1445Lys
XM_017029601.2:c.4243G>A	XP_016885090.1:p.Glu1415Lys
XM_017029602.1:c.4213G>A	XP_016885091.1:p.Glu1405Lys
XM_017029603.1:c.4165G>A	XP_016885092.1:p.Glu1389Lys
XM_017029604.2:c.4132G>A	XP_016885093.1:p.Glu1378Lys
XM_017029605.1:c.4129G>A	XP_016885094.1:p.Glu1377Lys
XM_017029606.2:c.4102G>A	XP_016885095.1:p.Glu1368Lys
XM_017029607.2:c.4099G>A	XP_016885096.1:p.Glu1367Lys
XM_017029608.2:c.4051G>A	XP_016885097.1:p.Glu1351Lys
XM_017029609.1:c.4015G>A	XP_016885098.1:p.Glu1339Lys
XM_017029610.1:c.4012G>A	XP_016885099.1:p.Glu1338Lys
XM_017029611.1:c.3967G>A	XP_016885100.1:p.Glu1323Lys
XR_001755700.2:n.4558G>A
NM_138270.4:c.4219G>A	NP_612114.2:p.Glu1407Lys
NM_000489.6:c.4333G>A MANE Select	NP_000480.3:p.Glu1445Lys
NM_138270.5:c.4219G>A	NP_612114.2:p.Glu1407Lys