Canonical Allele Identifier: CA413701250

Gene: ATRX

Linked Data

• dbSNP Id: rs2148020060
• COSMIC: COSM6448472 ; COSM6448473
• MyVariant Identifiers: chrX:g.76829805C>T (hg19) ; chrX:g.77574340C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574340C>T , CM000685.2:g.77574340C>T	GRCh38
NC_000023.10:g.76829805C>T , CM000685.1:g.76829805C>T	GRCh37
NC_000023.9:g.76716461C>T	NCBI36
NG_008838.2:g.216882G>A
NG_008838.3:g.216930G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6236G>A MANE Select	ENSP00000362441.4:p.Arg2079Gln
ENST00000636152.1:n.71G>A
ENST00000675732.1:c.1334G>A	ENSP00000502598.1:p.Arg445Gln
ENST00000373344.9:c.6236G>A	ENSP00000362441.4:p.Arg2079Gln
ENST00000395603.7:c.6122G>A	ENSP00000378967.3:p.Arg2041Gln
ENST00000480283.5:c.*5864G>A	ENSP00000480196.1:n.*5864G>A
ENST00000623316.1:c.720G>A
ENST00000623706.3:n.3306G>A
NM_000489.4:c.6236G>A	NP_000480.3:p.Arg2079Gln
NM_138270.3:c.6122G>A	NP_612114.2:p.Arg2041Gln
XM_005262153.3:c.6233G>A	XP_005262210.2:p.Arg2078Gln
XM_005262154.3:c.6149G>A	XP_005262211.2:p.Arg2050Gln
XM_005262155.3:c.6119G>A	XP_005262212.2:p.Arg2040Gln
XM_005262156.3:c.6071G>A	XP_005262213.2:p.Arg2024Gln
XM_005262157.3:c.6032G>A	XP_005262214.2:p.Arg2011Gln
XM_006724666.2:c.6119G>A	XP_006724729.1:p.Arg2040Gln
XM_006724667.2:c.5957G>A	XP_006724730.1:p.Arg1986Gln
XR_938400.1:n.6578G>A
NM_000489.5:c.6236G>A	NP_000480.3:p.Arg2079Gln
XM_005262153.5:c.6233G>A	XP_005262210.2:p.Arg2078Gln
XM_005262154.5:c.6149G>A	XP_005262211.2:p.Arg2050Gln
XM_005262155.4:c.6119G>A	XP_005262212.2:p.Arg2040Gln
XM_005262156.4:c.6071G>A	XP_005262213.2:p.Arg2024Gln
XM_005262157.5:c.6032G>A	XP_005262214.2:p.Arg2011Gln
XM_006724666.4:c.6119G>A	XP_006724729.1:p.Arg2040Gln
XM_006724667.3:c.5957G>A	XP_006724730.1:p.Arg1986Gln
XM_017029601.2:c.6146G>A	XP_016885090.1:p.Arg2049Gln
XM_017029602.1:c.6116G>A	XP_016885091.1:p.Arg2039Gln
XM_017029603.1:c.6068G>A	XP_016885092.1:p.Arg2023Gln
XM_017029604.2:c.6035G>A	XP_016885093.1:p.Arg2012Gln
XM_017029605.1:c.6032G>A	XP_016885094.1:p.Arg2011Gln
XM_017029606.2:c.6005G>A	XP_016885095.1:p.Arg2002Gln
XM_017029607.2:c.6002G>A	XP_016885096.1:p.Arg2001Gln
XM_017029608.2:c.5954G>A	XP_016885097.1:p.Arg1985Gln
XM_017029609.1:c.5918G>A	XP_016885098.1:p.Arg1973Gln
XM_017029610.1:c.5915G>A	XP_016885099.1:p.Arg1972Gln
XM_017029611.1:c.5870G>A	XP_016885100.1:p.Arg1957Gln
XR_001755700.2:n.6535G>A
NM_138270.4:c.6122G>A	NP_612114.2:p.Arg2041Gln
NM_000489.6:c.6236G>A MANE Select	NP_000480.3:p.Arg2079Gln
NM_138270.5:c.6122G>A	NP_612114.2:p.Arg2041Gln