Canonical Allele Identifier: CA413704223

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1557510
• ClinVar RCV Id: RCV002195015
• dbSNP Id: rs2147648778
• MyVariant Identifiers: chrX:g.76763958G>C (hg19) ; chrX:g.77508480G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508480G>C , CM000685.2:g.77508480G>C	GRCh38
NC_000023.10:g.76763958G>C , CM000685.1:g.76763958G>C	GRCh37
NC_000023.9:g.76650614G>C	NCBI36
NG_008838.2:g.282742C>G
NG_008838.3:g.282790C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7350C>G MANE Select	ENSP00000362441.4:p.Asn2450Lys
ENST00000675732.1:c.2448C>G	ENSP00000502598.1:p.Asn816Lys
ENST00000373344.9:c.7350C>G	ENSP00000362441.4:p.Asn2450Lys
ENST00000395603.7:c.7236C>G	ENSP00000378967.3:p.Asn2412Lys
ENST00000480283.5:c.*6978C>G	ENSP00000480196.1:n.*6978C>G
ENST00000623706.3:n.5670C>G
NM_000489.4:c.7350C>G	NP_000480.3:p.Asn2450Lys
NM_138270.3:c.7236C>G	NP_612114.2:p.Asn2412Lys
XM_005262153.3:c.7347C>G	XP_005262210.2:p.Asn2449Lys
XM_005262154.3:c.7263C>G	XP_005262211.2:p.Asn2421Lys
XM_005262155.3:c.7233C>G	XP_005262212.2:p.Asn2411Lys
XM_005262156.3:c.7185C>G	XP_005262213.2:p.Asn2395Lys
XM_005262157.3:c.7146C>G	XP_005262214.2:p.Asn2382Lys
XM_006724666.2:c.7233C>G	XP_006724729.1:p.Asn2411Lys
XM_006724667.2:c.7071C>G	XP_006724730.1:p.Asn2357Lys
XR_938400.1:n.8942C>G
NM_000489.5:c.7350C>G	NP_000480.3:p.Asn2450Lys
XM_005262153.5:c.7347C>G	XP_005262210.2:p.Asn2449Lys
XM_005262154.5:c.7263C>G	XP_005262211.2:p.Asn2421Lys
XM_005262155.4:c.7233C>G	XP_005262212.2:p.Asn2411Lys
XM_005262156.4:c.7185C>G	XP_005262213.2:p.Asn2395Lys
XM_005262157.5:c.7146C>G	XP_005262214.2:p.Asn2382Lys
XM_006724666.4:c.7233C>G	XP_006724729.1:p.Asn2411Lys
XM_006724667.3:c.7071C>G	XP_006724730.1:p.Asn2357Lys
XM_017029601.2:c.7260C>G	XP_016885090.1:p.Asn2420Lys
XM_017029602.1:c.7230C>G	XP_016885091.1:p.Asn2410Lys
XM_017029603.1:c.7182C>G	XP_016885092.1:p.Asn2394Lys
XM_017029604.2:c.7149C>G	XP_016885093.1:p.Asn2383Lys
XM_017029605.1:c.7146C>G	XP_016885094.1:p.Asn2382Lys
XM_017029606.2:c.7119C>G	XP_016885095.1:p.Asn2373Lys
XM_017029607.2:c.7116C>G	XP_016885096.1:p.Asn2372Lys
XM_017029608.2:c.7068C>G	XP_016885097.1:p.Asn2356Lys
XM_017029609.1:c.7032C>G	XP_016885098.1:p.Asn2344Lys
XM_017029610.1:c.7029C>G	XP_016885099.1:p.Asn2343Lys
XM_017029611.1:c.6984C>G	XP_016885100.1:p.Asn2328Lys
XR_001755700.2:n.7649C>G
NM_138270.4:c.7236C>G	NP_612114.2:p.Asn2412Lys
NM_000489.6:c.7350C>G MANE Select	NP_000480.3:p.Asn2450Lys
NM_138270.5:c.7236C>G	NP_612114.2:p.Asn2412Lys