Canonical Allele Identifier: CA413704034

Gene: ATRX

Linked Data

• ClinVar Variation Id: 3056438
• ClinVar RCV Id: RCV004540889
• dbSNP Id: rs2147647948
• MyVariant Identifiers: chrX:g.76763931C>T (hg19) ; chrX:g.77508453C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508453C>T , CM000685.2:g.77508453C>T	GRCh38
NC_000023.10:g.76763931C>T , CM000685.1:g.76763931C>T	GRCh37
NC_000023.9:g.76650587C>T	NCBI36
NG_008838.2:g.282769G>A
NG_008838.3:g.282817G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7377G>A MANE Select	ENSP00000362441.4:p.Met2459Ile
ENST00000675732.1:c.2475G>A	ENSP00000502598.1:p.Met825Ile
ENST00000373344.9:c.7377G>A	ENSP00000362441.4:p.Met2459Ile
ENST00000395603.7:c.7263G>A	ENSP00000378967.3:p.Met2421Ile
ENST00000480283.5:c.*7005G>A	ENSP00000480196.1:n.*7005G>A
ENST00000623706.3:n.5697G>A
NM_000489.4:c.7377G>A	NP_000480.3:p.Met2459Ile
NM_138270.3:c.7263G>A	NP_612114.2:p.Met2421Ile
XM_005262153.3:c.7374G>A	XP_005262210.2:p.Met2458Ile
XM_005262154.3:c.7290G>A	XP_005262211.2:p.Met2430Ile
XM_005262155.3:c.7260G>A	XP_005262212.2:p.Met2420Ile
XM_005262156.3:c.7212G>A	XP_005262213.2:p.Met2404Ile
XM_005262157.3:c.7173G>A	XP_005262214.2:p.Met2391Ile
XM_006724666.2:c.7260G>A	XP_006724729.1:p.Met2420Ile
XM_006724667.2:c.7098G>A	XP_006724730.1:p.Met2366Ile
XR_938400.1:n.8969G>A
NM_000489.5:c.7377G>A	NP_000480.3:p.Met2459Ile
XM_005262153.5:c.7374G>A	XP_005262210.2:p.Met2458Ile
XM_005262154.5:c.7290G>A	XP_005262211.2:p.Met2430Ile
XM_005262155.4:c.7260G>A	XP_005262212.2:p.Met2420Ile
XM_005262156.4:c.7212G>A	XP_005262213.2:p.Met2404Ile
XM_005262157.5:c.7173G>A	XP_005262214.2:p.Met2391Ile
XM_006724666.4:c.7260G>A	XP_006724729.1:p.Met2420Ile
XM_006724667.3:c.7098G>A	XP_006724730.1:p.Met2366Ile
XM_017029601.2:c.7287G>A	XP_016885090.1:p.Met2429Ile
XM_017029602.1:c.7257G>A	XP_016885091.1:p.Met2419Ile
XM_017029603.1:c.7209G>A	XP_016885092.1:p.Met2403Ile
XM_017029604.2:c.7176G>A	XP_016885093.1:p.Met2392Ile
XM_017029605.1:c.7173G>A	XP_016885094.1:p.Met2391Ile
XM_017029606.2:c.7146G>A	XP_016885095.1:p.Met2382Ile
XM_017029607.2:c.7143G>A	XP_016885096.1:p.Met2381Ile
XM_017029608.2:c.7095G>A	XP_016885097.1:p.Met2365Ile
XM_017029609.1:c.7059G>A	XP_016885098.1:p.Met2353Ile
XM_017029610.1:c.7056G>A	XP_016885099.1:p.Met2352Ile
XM_017029611.1:c.7011G>A	XP_016885100.1:p.Met2337Ile
XR_001755700.2:n.7676G>A
NM_138270.4:c.7263G>A	NP_612114.2:p.Met2421Ile
NM_000489.6:c.7377G>A MANE Select	NP_000480.3:p.Met2459Ile
NM_138270.5:c.7263G>A	NP_612114.2:p.Met2421Ile