Canonical Allele Identifier: CA220995

Gene: ATRX

Linked Data

• ClinVar Variation Id: 93141
• ClinVar RCV Id: RCV000078965 ; RCV000850379 ; RCV001262503
• dbSNP Id: rs398123425
• COSMIC: COSM3424967 ; COSM3424968
• MyVariant Identifiers: chrX:g.76944369T>C (hg19) ; chrX:g.77688876T>C (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77688876T>C , CM000685.2:g.77688876T>C	GRCh38
NC_000023.10:g.76944369T>C , CM000685.1:g.76944369T>C	GRCh37
NC_000023.9:g.76831025T>C	NCBI36
NG_008838.2:g.102346A>G
NG_008838.3:g.102394A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.536A>G MANE Select	ENSP00000362441.4:p.Asn179Ser
ENST00000373344.9:c.536A>G	ENSP00000362441.4:p.Asn179Ser
ENST00000395603.7:c.422A>G	ENSP00000378967.3:p.Asn141Ser
ENST00000480283.5:c.*164A>G	ENSP00000480196.1:n.*164A>G
ENST00000623321.3:c.371A>G	ENSP00000485127.1:p.Asn124Ser
ENST00000624032.3:c.536A>G	ENSP00000485253.1:p.Asn179Ser
ENST00000624166.3:c.419A>G	ENSP00000485103.1:p.Asn140Ser
ENST00000624668.3:c.257A>G	ENSP00000485100.1:p.Asn86Ser
ENST00000625063.3:c.351A>G
NM_000489.4:c.536A>G	NP_000480.3:p.Asn179Ser
NM_138270.3:c.422A>G	NP_612114.2:p.Asn141Ser
XM_005262153.3:c.533A>G	XP_005262210.2:p.Asn178Ser
XM_005262154.3:c.536A>G	XP_005262211.2:p.Asn179Ser
XM_005262155.3:c.419A>G	XP_005262212.2:p.Asn140Ser
XM_005262156.3:c.371A>G	XP_005262213.2:p.Asn124Ser
XM_005262157.3:c.419A>G	XP_005262214.2:p.Asn140Ser
XM_006724666.2:c.419A>G	XP_006724729.1:p.Asn140Ser
XM_006724667.2:c.257A>G	XP_006724730.1:p.Asn86Ser
XM_006724668.2:c.536A>G	XP_006724731.1:p.Asn179Ser
XR_938400.1:n.804A>G
NM_000489.5:c.536A>G	NP_000480.3:p.Asn179Ser
XM_005262153.5:c.533A>G	XP_005262210.2:p.Asn178Ser
XM_005262154.5:c.536A>G	XP_005262211.2:p.Asn179Ser
XM_005262155.4:c.419A>G	XP_005262212.2:p.Asn140Ser
XM_005262156.4:c.371A>G	XP_005262213.2:p.Asn124Ser
XM_005262157.5:c.419A>G	XP_005262214.2:p.Asn140Ser
XM_006724666.4:c.419A>G	XP_006724729.1:p.Asn140Ser
XM_006724667.3:c.257A>G	XP_006724730.1:p.Asn86Ser
XM_006724668.3:c.536A>G	XP_006724731.1:p.Asn179Ser
XM_017029601.2:c.533A>G	XP_016885090.1:p.Asn178Ser
XM_017029602.1:c.416A>G	XP_016885091.1:p.Asn139Ser
XM_017029603.1:c.368A>G	XP_016885092.1:p.Asn123Ser
XM_017029604.2:c.422A>G	XP_016885093.1:p.Asn141Ser
XM_017029605.1:c.419A>G	XP_016885094.1:p.Asn140Ser
XM_017029606.2:c.305A>G	XP_016885095.1:p.Asn102Ser
XM_017029607.2:c.302A>G	XP_016885096.1:p.Asn101Ser
XM_017029608.2:c.254A>G	XP_016885097.1:p.Asn85Ser
XM_017029609.1:c.305A>G	XP_016885098.1:p.Asn102Ser
XM_017029610.1:c.302A>G	XP_016885099.1:p.Asn101Ser
XM_017029611.1:c.257A>G	XP_016885100.1:p.Asn86Ser
XR_001755700.2:n.761A>G
NM_138270.4:c.422A>G	NP_612114.2:p.Asn141Ser
NM_000489.6:c.536A>G MANE Select	NP_000480.3:p.Asn179Ser
NM_138270.5:c.422A>G	NP_612114.2:p.Asn141Ser