Canonical Allele Identifier: CA413708943

Gene: ATRX

Linked Data

• dbSNP Id: rs2148440346
• COSMIC: COSM1125441 ; COSM1125442
• MyVariant Identifiers: chrX:g.76907825C>A (hg19) ; chrX:g.77652335C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652335C>A , CM000685.2:g.77652335C>A	GRCh38
NC_000023.10:g.76907825C>A , CM000685.1:g.76907825C>A	GRCh37
NC_000023.9:g.76794481C>A	NCBI36
NG_008838.2:g.138887G>T
NG_008838.3:g.138935G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4336G>T MANE Select	ENSP00000362441.4:p.Glu1446Ter
ENST00000373344.9:c.4336G>T	ENSP00000362441.4:p.Glu1446Ter
ENST00000395603.7:c.4222G>T	ENSP00000378967.3:p.Glu1408Ter
ENST00000480283.5:c.*3964G>T	ENSP00000480196.1:n.*3964G>T
NM_000489.4:c.4336G>T	NP_000480.3:p.Glu1446Ter
NM_138270.3:c.4222G>T	NP_612114.2:p.Glu1408Ter
XM_005262153.3:c.4333G>T	XP_005262210.2:p.Glu1445Ter
XM_005262154.3:c.4249G>T	XP_005262211.2:p.Glu1417Ter
XM_005262155.3:c.4219G>T	XP_005262212.2:p.Glu1407Ter
XM_005262156.3:c.4171G>T	XP_005262213.2:p.Glu1391Ter
XM_005262157.3:c.4132G>T	XP_005262214.2:p.Glu1378Ter
XM_006724666.2:c.4219G>T	XP_006724729.1:p.Glu1407Ter
XM_006724667.2:c.4057G>T	XP_006724730.1:p.Glu1353Ter
XM_006724668.2:c.4336G>T	XP_006724731.1:p.Glu1446Ter
XR_938400.1:n.4604G>T
NM_000489.5:c.4336G>T	NP_000480.3:p.Glu1446Ter
XM_005262153.5:c.4333G>T	XP_005262210.2:p.Glu1445Ter
XM_005262154.5:c.4249G>T	XP_005262211.2:p.Glu1417Ter
XM_005262155.4:c.4219G>T	XP_005262212.2:p.Glu1407Ter
XM_005262156.4:c.4171G>T	XP_005262213.2:p.Glu1391Ter
XM_005262157.5:c.4132G>T	XP_005262214.2:p.Glu1378Ter
XM_006724666.4:c.4219G>T	XP_006724729.1:p.Glu1407Ter
XM_006724667.3:c.4057G>T	XP_006724730.1:p.Glu1353Ter
XM_006724668.3:c.4336G>T	XP_006724731.1:p.Glu1446Ter
XM_017029601.2:c.4246G>T	XP_016885090.1:p.Glu1416Ter
XM_017029602.1:c.4216G>T	XP_016885091.1:p.Glu1406Ter
XM_017029603.1:c.4168G>T	XP_016885092.1:p.Glu1390Ter
XM_017029604.2:c.4135G>T	XP_016885093.1:p.Glu1379Ter
XM_017029605.1:c.4132G>T	XP_016885094.1:p.Glu1378Ter
XM_017029606.2:c.4105G>T	XP_016885095.1:p.Glu1369Ter
XM_017029607.2:c.4102G>T	XP_016885096.1:p.Glu1368Ter
XM_017029608.2:c.4054G>T	XP_016885097.1:p.Glu1352Ter
XM_017029609.1:c.4018G>T	XP_016885098.1:p.Glu1340Ter
XM_017029610.1:c.4015G>T	XP_016885099.1:p.Glu1339Ter
XM_017029611.1:c.3970G>T	XP_016885100.1:p.Glu1324Ter
XR_001755700.2:n.4561G>T
NM_138270.4:c.4222G>T	NP_612114.2:p.Glu1408Ter
NM_000489.6:c.4336G>T MANE Select	NP_000480.3:p.Glu1446Ter
NM_138270.5:c.4222G>T	NP_612114.2:p.Glu1408Ter