Canonical Allele Identifier: CA413712817

Gene: ATRX

Linked Data

• ClinVar Variation Id: 533632
• ClinVar RCV Id: RCV000640838
• dbSNP Id: rs1557140015
• MyVariant Identifiers: chrX:g.76938486A>C (hg19) ; chrX:g.77682994A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77682994A>C , CM000685.2:g.77682994A>C	GRCh38
NC_000023.10:g.76938486A>C , CM000685.1:g.76938486A>C	GRCh37
NC_000023.9:g.76825142A>C	NCBI36
NG_008838.2:g.108228T>G
NG_008838.3:g.108276T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.2262T>G MANE Select	ENSP00000362441.4:p.Ile754Met
ENST00000373344.9:c.2262T>G	ENSP00000362441.4:p.Ile754Met
ENST00000395603.7:c.2148T>G	ENSP00000378967.3:p.Ile716Met
ENST00000480283.5:c.*1890T>G	ENSP00000480196.1:n.*1890T>G
ENST00000624032.3:c.2175T>G	ENSP00000485253.1:p.Ile725Met
ENST00000624166.3:c.2058T>G	ENSP00000485103.1:p.Ile686Met
NM_000489.4:c.2262T>G	NP_000480.3:p.Ile754Met
NM_138270.3:c.2148T>G	NP_612114.2:p.Ile716Met
XM_005262153.3:c.2259T>G	XP_005262210.2:p.Ile753Met
XM_005262154.3:c.2175T>G	XP_005262211.2:p.Ile725Met
XM_005262155.3:c.2145T>G	XP_005262212.2:p.Ile715Met
XM_005262156.3:c.2097T>G	XP_005262213.2:p.Ile699Met
XM_005262157.3:c.2058T>G	XP_005262214.2:p.Ile686Met
XM_006724666.2:c.2145T>G	XP_006724729.1:p.Ile715Met
XM_006724667.2:c.1983T>G	XP_006724730.1:p.Ile661Met
XM_006724668.2:c.2262T>G	XP_006724731.1:p.Ile754Met
XR_938400.1:n.2530T>G
NM_000489.5:c.2262T>G	NP_000480.3:p.Ile754Met
XM_005262153.5:c.2259T>G	XP_005262210.2:p.Ile753Met
XM_005262154.5:c.2175T>G	XP_005262211.2:p.Ile725Met
XM_005262155.4:c.2145T>G	XP_005262212.2:p.Ile715Met
XM_005262156.4:c.2097T>G	XP_005262213.2:p.Ile699Met
XM_005262157.5:c.2058T>G	XP_005262214.2:p.Ile686Met
XM_006724666.4:c.2145T>G	XP_006724729.1:p.Ile715Met
XM_006724667.3:c.1983T>G	XP_006724730.1:p.Ile661Met
XM_006724668.3:c.2262T>G	XP_006724731.1:p.Ile754Met
XM_017029601.2:c.2172T>G	XP_016885090.1:p.Ile724Met
XM_017029602.1:c.2142T>G	XP_016885091.1:p.Ile714Met
XM_017029603.1:c.2094T>G	XP_016885092.1:p.Ile698Met
XM_017029604.2:c.2061T>G	XP_016885093.1:p.Ile687Met
XM_017029605.1:c.2058T>G	XP_016885094.1:p.Ile686Met
XM_017029606.2:c.2031T>G	XP_016885095.1:p.Ile677Met
XM_017029607.2:c.2028T>G	XP_016885096.1:p.Ile676Met
XM_017029608.2:c.1980T>G	XP_016885097.1:p.Ile660Met
XM_017029609.1:c.1944T>G	XP_016885098.1:p.Ile648Met
XM_017029610.1:c.1941T>G	XP_016885099.1:p.Ile647Met
XM_017029611.1:c.1896T>G	XP_016885100.1:p.Ile632Met
XR_001755700.2:n.2487T>G
NM_138270.4:c.2148T>G	NP_612114.2:p.Ile716Met
NM_000489.6:c.2262T>G MANE Select	NP_000480.3:p.Ile754Met
NM_138270.5:c.2148T>G	NP_612114.2:p.Ile716Met