Canonical Allele Identifier: CA256047

Gene: ATRX

Linked Data

• ClinVar Variation Id: 11736
• ClinVar RCV Id: RCV000012502
• dbSNP Id: rs122445104
• MyVariant Identifiers: chrX:g.76875910C>T (hg19) ; chrX:g.77620442C>T (hg38)
• PubMed: PMID:9598720 ; PMID:10417298

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77620442C>T , CM000685.2:g.77620442C>T	GRCh38
NC_000023.10:g.76875910C>T , CM000685.1:g.76875910C>T	GRCh37
NC_000023.9:g.76762566C>T	NCBI36
NG_008838.2:g.170780G>A
NG_008838.3:g.170828G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.5225G>A MANE Select	ENSP00000362441.4:p.Arg1742Lys
ENST00000675732.1:c.323G>A	ENSP00000502598.1:p.Arg108Lys
ENST00000675908.1:n.960G>A
ENST00000373344.9:c.5225G>A	ENSP00000362441.4:p.Arg1742Lys
ENST00000395603.7:c.5111G>A	ENSP00000378967.3:p.Arg1704Lys
ENST00000400866.4:c.206G>A	ENSP00000383663.3:p.Arg69Lys
ENST00000480283.5:c.*4853G>A	ENSP00000480196.1:n.*4853G>A
ENST00000624403.1:n.569G>A
NM_000489.4:c.5225G>A	NP_000480.3:p.Arg1742Lys
NM_138270.3:c.5111G>A	NP_612114.2:p.Arg1704Lys
XM_005262153.3:c.5222G>A	XP_005262210.2:p.Arg1741Lys
XM_005262154.3:c.5138G>A	XP_005262211.2:p.Arg1713Lys
XM_005262155.3:c.5108G>A	XP_005262212.2:p.Arg1703Lys
XM_005262156.3:c.5060G>A	XP_005262213.2:p.Arg1687Lys
XM_005262157.3:c.5021G>A	XP_005262214.2:p.Arg1674Lys
XM_006724666.2:c.5108G>A	XP_006724729.1:p.Arg1703Lys
XM_006724667.2:c.4946G>A	XP_006724730.1:p.Arg1649Lys
XM_006724668.2:c.5225G>A	XP_006724731.1:p.Arg1742Lys
XR_938400.1:n.5493G>A
NM_000489.5:c.5225G>A	NP_000480.3:p.Arg1742Lys
XM_005262153.5:c.5222G>A	XP_005262210.2:p.Arg1741Lys
XM_005262154.5:c.5138G>A	XP_005262211.2:p.Arg1713Lys
XM_005262155.4:c.5108G>A	XP_005262212.2:p.Arg1703Lys
XM_005262156.4:c.5060G>A	XP_005262213.2:p.Arg1687Lys
XM_005262157.5:c.5021G>A	XP_005262214.2:p.Arg1674Lys
XM_006724666.4:c.5108G>A	XP_006724729.1:p.Arg1703Lys
XM_006724667.3:c.4946G>A	XP_006724730.1:p.Arg1649Lys
XM_006724668.3:c.5225G>A	XP_006724731.1:p.Arg1742Lys
XM_017029601.2:c.5135G>A	XP_016885090.1:p.Arg1712Lys
XM_017029602.1:c.5105G>A	XP_016885091.1:p.Arg1702Lys
XM_017029603.1:c.5057G>A	XP_016885092.1:p.Arg1686Lys
XM_017029604.2:c.5024G>A	XP_016885093.1:p.Arg1675Lys
XM_017029605.1:c.5021G>A	XP_016885094.1:p.Arg1674Lys
XM_017029606.2:c.4994G>A	XP_016885095.1:p.Arg1665Lys
XM_017029607.2:c.4991G>A	XP_016885096.1:p.Arg1664Lys
XM_017029608.2:c.4943G>A	XP_016885097.1:p.Arg1648Lys
XM_017029609.1:c.4907G>A	XP_016885098.1:p.Arg1636Lys
XM_017029610.1:c.4904G>A	XP_016885099.1:p.Arg1635Lys
XM_017029611.1:c.4859G>A	XP_016885100.1:p.Arg1620Lys
XR_001755700.2:n.5450G>A
NM_138270.4:c.5111G>A	NP_612114.2:p.Arg1704Lys
NM_000489.6:c.5225G>A MANE Select	NP_000480.3:p.Arg1742Lys
NM_138270.5:c.5111G>A	NP_612114.2:p.Arg1704Lys