Canonical Allele Identifier: CA413708994

Gene: ATRX

Linked Data

• dbSNP Id: rs2148440550
• COSMIC: COSM6407500 ; COSM6407501
• MyVariant Identifiers: chrX:g.76907834C>A (hg19) ; chrX:g.77652344C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652344C>A , CM000685.2:g.77652344C>A	GRCh38
NC_000023.10:g.76907834C>A , CM000685.1:g.76907834C>A	GRCh37
NC_000023.9:g.76794490C>A	NCBI36
NG_008838.2:g.138878G>T
NG_008838.3:g.138926G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4327G>T MANE Select	ENSP00000362441.4:p.Glu1443Ter
ENST00000373344.9:c.4327G>T	ENSP00000362441.4:p.Glu1443Ter
ENST00000395603.7:c.4213G>T	ENSP00000378967.3:p.Glu1405Ter
ENST00000480283.5:c.*3955G>T	ENSP00000480196.1:n.*3955G>T
NM_000489.4:c.4327G>T	NP_000480.3:p.Glu1443Ter
NM_138270.3:c.4213G>T	NP_612114.2:p.Glu1405Ter
XM_005262153.3:c.4324G>T	XP_005262210.2:p.Glu1442Ter
XM_005262154.3:c.4240G>T	XP_005262211.2:p.Glu1414Ter
XM_005262155.3:c.4210G>T	XP_005262212.2:p.Glu1404Ter
XM_005262156.3:c.4162G>T	XP_005262213.2:p.Glu1388Ter
XM_005262157.3:c.4123G>T	XP_005262214.2:p.Glu1375Ter
XM_006724666.2:c.4210G>T	XP_006724729.1:p.Glu1404Ter
XM_006724667.2:c.4048G>T	XP_006724730.1:p.Glu1350Ter
XM_006724668.2:c.4327G>T	XP_006724731.1:p.Glu1443Ter
XR_938400.1:n.4595G>T
NM_000489.5:c.4327G>T	NP_000480.3:p.Glu1443Ter
XM_005262153.5:c.4324G>T	XP_005262210.2:p.Glu1442Ter
XM_005262154.5:c.4240G>T	XP_005262211.2:p.Glu1414Ter
XM_005262155.4:c.4210G>T	XP_005262212.2:p.Glu1404Ter
XM_005262156.4:c.4162G>T	XP_005262213.2:p.Glu1388Ter
XM_005262157.5:c.4123G>T	XP_005262214.2:p.Glu1375Ter
XM_006724666.4:c.4210G>T	XP_006724729.1:p.Glu1404Ter
XM_006724667.3:c.4048G>T	XP_006724730.1:p.Glu1350Ter
XM_006724668.3:c.4327G>T	XP_006724731.1:p.Glu1443Ter
XM_017029601.2:c.4237G>T	XP_016885090.1:p.Glu1413Ter
XM_017029602.1:c.4207G>T	XP_016885091.1:p.Glu1403Ter
XM_017029603.1:c.4159G>T	XP_016885092.1:p.Glu1387Ter
XM_017029604.2:c.4126G>T	XP_016885093.1:p.Glu1376Ter
XM_017029605.1:c.4123G>T	XP_016885094.1:p.Glu1375Ter
XM_017029606.2:c.4096G>T	XP_016885095.1:p.Glu1366Ter
XM_017029607.2:c.4093G>T	XP_016885096.1:p.Glu1365Ter
XM_017029608.2:c.4045G>T	XP_016885097.1:p.Glu1349Ter
XM_017029609.1:c.4009G>T	XP_016885098.1:p.Glu1337Ter
XM_017029610.1:c.4006G>T	XP_016885099.1:p.Glu1336Ter
XM_017029611.1:c.3961G>T	XP_016885100.1:p.Glu1321Ter
XR_001755700.2:n.4552G>T
NM_138270.4:c.4213G>T	NP_612114.2:p.Glu1405Ter
NM_000489.6:c.4327G>T MANE Select	NP_000480.3:p.Glu1443Ter
NM_138270.5:c.4213G>T	NP_612114.2:p.Glu1405Ter