Canonical Allele Identifier: CA331560033

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1581653
• ClinVar RCV Id: RCV002088534
• dbSNP Id: rs1044007508
• MyVariant Identifiers: chrX:g.76763883T>C (hg19) ; chrX:g.77508405T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508405T>C , CM000685.2:g.77508405T>C	GRCh38
NC_000023.10:g.76763883T>C , CM000685.1:g.76763883T>C	GRCh37
NC_000023.9:g.76650539T>C	NCBI36
NG_008838.2:g.282817A>G
NG_008838.3:g.282865A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7425A>G MANE Select	ENSP00000362441.4:p.Ala2475=
ENST00000675732.1:c.2523A>G	ENSP00000502598.1:p.Ala841=
ENST00000373344.9:c.7425A>G	ENSP00000362441.4:p.Ala2475=
ENST00000395603.7:c.7311A>G	ENSP00000378967.3:p.Ala2437=
ENST00000480283.5:c.*7053A>G	ENSP00000480196.1:n.*7053A>G
ENST00000623706.3:n.5745A>G
NM_000489.4:c.7425A>G	NP_000480.3:p.Ala2475=
NM_138270.3:c.7311A>G	NP_612114.2:p.Ala2437=
XM_005262153.3:c.7422A>G	XP_005262210.2:p.Ala2474=
XM_005262154.3:c.7338A>G	XP_005262211.2:p.Ala2446=
XM_005262155.3:c.7308A>G	XP_005262212.2:p.Ala2436=
XM_005262156.3:c.7260A>G	XP_005262213.2:p.Ala2420=
XM_005262157.3:c.7221A>G	XP_005262214.2:p.Ala2407=
XM_006724666.2:c.7308A>G	XP_006724729.1:p.Ala2436=
XM_006724667.2:c.7146A>G	XP_006724730.1:p.Ala2382=
XR_938400.1:n.9017A>G
NM_000489.5:c.7425A>G	NP_000480.3:p.Ala2475=
XM_005262153.5:c.7422A>G	XP_005262210.2:p.Ala2474=
XM_005262154.5:c.7338A>G	XP_005262211.2:p.Ala2446=
XM_005262155.4:c.7308A>G	XP_005262212.2:p.Ala2436=
XM_005262156.4:c.7260A>G	XP_005262213.2:p.Ala2420=
XM_005262157.5:c.7221A>G	XP_005262214.2:p.Ala2407=
XM_006724666.4:c.7308A>G	XP_006724729.1:p.Ala2436=
XM_006724667.3:c.7146A>G	XP_006724730.1:p.Ala2382=
XM_017029601.2:c.7335A>G	XP_016885090.1:p.Ala2445=
XM_017029602.1:c.7305A>G	XP_016885091.1:p.Ala2435=
XM_017029603.1:c.7257A>G	XP_016885092.1:p.Ala2419=
XM_017029604.2:c.7224A>G	XP_016885093.1:p.Ala2408=
XM_017029605.1:c.7221A>G	XP_016885094.1:p.Ala2407=
XM_017029606.2:c.7194A>G	XP_016885095.1:p.Ala2398=
XM_017029607.2:c.7191A>G	XP_016885096.1:p.Ala2397=
XM_017029608.2:c.7143A>G	XP_016885097.1:p.Ala2381=
XM_017029609.1:c.7107A>G	XP_016885098.1:p.Ala2369=
XM_017029610.1:c.7104A>G	XP_016885099.1:p.Ala2368=
XM_017029611.1:c.7059A>G	XP_016885100.1:p.Ala2353=
XR_001755700.2:n.7724A>G
NM_138270.4:c.7311A>G	NP_612114.2:p.Ala2437=
NM_000489.6:c.7425A>G MANE Select	NP_000480.3:p.Ala2475=
NM_138270.5:c.7311A>G	NP_612114.2:p.Ala2437=