Canonical Allele Identifier: CA247990

Gene: ATRX

Linked Data

• ClinVar Variation Id: 199025
• ClinVar RCV Id: RCV000180508 ; RCV000723983 ; RCV001085725
• dbSNP Id: rs145678415
• ExAC: X:76938880 T / C
• gnomAD v2: X-76938880-T-C
• gnomAD v3: X-77683388-T-C
• gnomAD v4: X-77683388-T-C
• COSMIC: COSM5977571 ; COSM5977572
• MyVariant Identifiers: chrX:g.76938880T>C (hg19) ; chrX:g.77683388T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77683388T>C , CM000685.2:g.77683388T>C	GRCh38
NC_000023.10:g.76938880T>C , CM000685.1:g.76938880T>C	GRCh37
NC_000023.9:g.76825536T>C	NCBI36
NG_008838.2:g.107834A>G
NG_008838.3:g.107882A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.1868A>G MANE Select	ENSP00000362441.4:p.Lys623Arg
ENST00000373344.9:c.1868A>G	ENSP00000362441.4:p.Lys623Arg
ENST00000395603.7:c.1754A>G	ENSP00000378967.3:p.Lys585Arg
ENST00000480283.5:c.*1496A>G	ENSP00000480196.1:n.*1496A>G
ENST00000624032.3:c.1781A>G	ENSP00000485253.1:p.Lys594Arg
ENST00000624166.3:c.1664A>G	ENSP00000485103.1:p.Lys555Arg
NM_000489.4:c.1868A>G	NP_000480.3:p.Lys623Arg
NM_138270.3:c.1754A>G	NP_612114.2:p.Lys585Arg
XM_005262153.3:c.1865A>G	XP_005262210.2:p.Lys622Arg
XM_005262154.3:c.1781A>G	XP_005262211.2:p.Lys594Arg
XM_005262155.3:c.1751A>G	XP_005262212.2:p.Lys584Arg
XM_005262156.3:c.1703A>G	XP_005262213.2:p.Lys568Arg
XM_005262157.3:c.1664A>G	XP_005262214.2:p.Lys555Arg
XM_006724666.2:c.1751A>G	XP_006724729.1:p.Lys584Arg
XM_006724667.2:c.1589A>G	XP_006724730.1:p.Lys530Arg
XM_006724668.2:c.1868A>G	XP_006724731.1:p.Lys623Arg
XR_938400.1:n.2136A>G
NM_000489.5:c.1868A>G	NP_000480.3:p.Lys623Arg
XM_005262153.5:c.1865A>G	XP_005262210.2:p.Lys622Arg
XM_005262154.5:c.1781A>G	XP_005262211.2:p.Lys594Arg
XM_005262155.4:c.1751A>G	XP_005262212.2:p.Lys584Arg
XM_005262156.4:c.1703A>G	XP_005262213.2:p.Lys568Arg
XM_005262157.5:c.1664A>G	XP_005262214.2:p.Lys555Arg
XM_006724666.4:c.1751A>G	XP_006724729.1:p.Lys584Arg
XM_006724667.3:c.1589A>G	XP_006724730.1:p.Lys530Arg
XM_006724668.3:c.1868A>G	XP_006724731.1:p.Lys623Arg
XM_017029601.2:c.1778A>G	XP_016885090.1:p.Lys593Arg
XM_017029602.1:c.1748A>G	XP_016885091.1:p.Lys583Arg
XM_017029603.1:c.1700A>G	XP_016885092.1:p.Lys567Arg
XM_017029604.2:c.1667A>G	XP_016885093.1:p.Lys556Arg
XM_017029605.1:c.1664A>G	XP_016885094.1:p.Lys555Arg
XM_017029606.2:c.1637A>G	XP_016885095.1:p.Lys546Arg
XM_017029607.2:c.1634A>G	XP_016885096.1:p.Lys545Arg
XM_017029608.2:c.1586A>G	XP_016885097.1:p.Lys529Arg
XM_017029609.1:c.1550A>G	XP_016885098.1:p.Lys517Arg
XM_017029610.1:c.1547A>G	XP_016885099.1:p.Lys516Arg
XM_017029611.1:c.1502A>G	XP_016885100.1:p.Lys501Arg
XR_001755700.2:n.2093A>G
NM_138270.4:c.1754A>G	NP_612114.2:p.Lys585Arg
NM_000489.6:c.1868A>G MANE Select	NP_000480.3:p.Lys623Arg
NM_138270.5:c.1754A>G	NP_612114.2:p.Lys585Arg