Canonical Allele Identifier: CA517471499

Gene: ATRX

Linked Data

• dbSNP Id: rs2069286361
• COSMIC: COSM4664628 ; COSM4664629
• MyVariant Identifiers: chrX:g.76907781T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652291T>C , CM000685.2:g.77652291T>C	GRCh38
NC_000023.10:g.76907781T>C , CM000685.1:g.76907781T>C	GRCh37
NC_000023.9:g.76794437T>C	NCBI36
NG_008838.2:g.138931A>G
NG_008838.3:g.138979A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4380A>G MANE Select	ENSP00000362441.4:p.Glu1460=
ENST00000373344.9:c.4380A>G	ENSP00000362441.4:p.Glu1460=
ENST00000395603.7:c.4266A>G	ENSP00000378967.3:p.Glu1422=
ENST00000480283.5:c.*4008A>G	ENSP00000480196.1:n.*4008A>G
NM_000489.4:c.4380A>G	NP_000480.3:p.Glu1460=
NM_138270.3:c.4266A>G	NP_612114.2:p.Glu1422=
XM_005262153.3:c.4377A>G	XP_005262210.2:p.Glu1459=
XM_005262154.3:c.4293A>G	XP_005262211.2:p.Glu1431=
XM_005262155.3:c.4263A>G	XP_005262212.2:p.Glu1421=
XM_005262156.3:c.4215A>G	XP_005262213.2:p.Glu1405=
XM_005262157.3:c.4176A>G	XP_005262214.2:p.Glu1392=
XM_006724666.2:c.4263A>G	XP_006724729.1:p.Glu1421=
XM_006724667.2:c.4101A>G	XP_006724730.1:p.Glu1367=
XM_006724668.2:c.4380A>G	XP_006724731.1:p.Glu1460=
XR_938400.1:n.4648A>G
NM_000489.5:c.4380A>G	NP_000480.3:p.Glu1460=
XM_005262153.5:c.4377A>G	XP_005262210.2:p.Glu1459=
XM_005262154.5:c.4293A>G	XP_005262211.2:p.Glu1431=
XM_005262155.4:c.4263A>G	XP_005262212.2:p.Glu1421=
XM_005262156.4:c.4215A>G	XP_005262213.2:p.Glu1405=
XM_005262157.5:c.4176A>G	XP_005262214.2:p.Glu1392=
XM_006724666.4:c.4263A>G	XP_006724729.1:p.Glu1421=
XM_006724667.3:c.4101A>G	XP_006724730.1:p.Glu1367=
XM_006724668.3:c.4380A>G	XP_006724731.1:p.Glu1460=
XM_017029601.2:c.4290A>G	XP_016885090.1:p.Glu1430=
XM_017029602.1:c.4260A>G	XP_016885091.1:p.Glu1420=
XM_017029603.1:c.4212A>G	XP_016885092.1:p.Glu1404=
XM_017029604.2:c.4179A>G	XP_016885093.1:p.Glu1393=
XM_017029605.1:c.4176A>G	XP_016885094.1:p.Glu1392=
XM_017029606.2:c.4149A>G	XP_016885095.1:p.Glu1383=
XM_017029607.2:c.4146A>G	XP_016885096.1:p.Glu1382=
XM_017029608.2:c.4098A>G	XP_016885097.1:p.Glu1366=
XM_017029609.1:c.4062A>G	XP_016885098.1:p.Glu1354=
XM_017029610.1:c.4059A>G	XP_016885099.1:p.Glu1353=
XM_017029611.1:c.4014A>G	XP_016885100.1:p.Glu1338=
XR_001755700.2:n.4605A>G
NM_138270.4:c.4266A>G	NP_612114.2:p.Glu1422=
NM_000489.6:c.4380A>G MANE Select	NP_000480.3:p.Glu1460=
NM_138270.5:c.4266A>G	NP_612114.2:p.Glu1422=