Canonical Allele Identifier: CA413700836

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829718A>T (hg19) ; chrX:g.77574253A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574253A>T , CM000685.2:g.77574253A>T	GRCh38
NC_000023.10:g.76829718A>T , CM000685.1:g.76829718A>T	GRCh37
NC_000023.9:g.76716374A>T	NCBI36
NG_008838.2:g.216969T>A
NG_008838.3:g.217017T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6323T>A MANE Select	ENSP00000362441.4:p.Val2108Glu
ENST00000675732.1:c.1421T>A	ENSP00000502598.1:p.Val474Glu
ENST00000373344.9:c.6323T>A	ENSP00000362441.4:p.Val2108Glu
ENST00000395603.7:c.6209T>A	ENSP00000378967.3:p.Val2070Glu
ENST00000480283.5:c.*5951T>A	ENSP00000480196.1:n.*5951T>A
ENST00000623706.3:n.3393T>A
NM_000489.4:c.6323T>A	NP_000480.3:p.Val2108Glu
NM_138270.3:c.6209T>A	NP_612114.2:p.Val2070Glu
XM_005262153.3:c.6320T>A	XP_005262210.2:p.Val2107Glu
XM_005262154.3:c.6236T>A	XP_005262211.2:p.Val2079Glu
XM_005262155.3:c.6206T>A	XP_005262212.2:p.Val2069Glu
XM_005262156.3:c.6158T>A	XP_005262213.2:p.Val2053Glu
XM_005262157.3:c.6119T>A	XP_005262214.2:p.Val2040Glu
XM_006724666.2:c.6206T>A	XP_006724729.1:p.Val2069Glu
XM_006724667.2:c.6044T>A	XP_006724730.1:p.Val2015Glu
XR_938400.1:n.6665T>A
NM_000489.5:c.6323T>A	NP_000480.3:p.Val2108Glu
XM_005262153.5:c.6320T>A	XP_005262210.2:p.Val2107Glu
XM_005262154.5:c.6236T>A	XP_005262211.2:p.Val2079Glu
XM_005262155.4:c.6206T>A	XP_005262212.2:p.Val2069Glu
XM_005262156.4:c.6158T>A	XP_005262213.2:p.Val2053Glu
XM_005262157.5:c.6119T>A	XP_005262214.2:p.Val2040Glu
XM_006724666.4:c.6206T>A	XP_006724729.1:p.Val2069Glu
XM_006724667.3:c.6044T>A	XP_006724730.1:p.Val2015Glu
XM_017029601.2:c.6233T>A	XP_016885090.1:p.Val2078Glu
XM_017029602.1:c.6203T>A	XP_016885091.1:p.Val2068Glu
XM_017029603.1:c.6155T>A	XP_016885092.1:p.Val2052Glu
XM_017029604.2:c.6122T>A	XP_016885093.1:p.Val2041Glu
XM_017029605.1:c.6119T>A	XP_016885094.1:p.Val2040Glu
XM_017029606.2:c.6092T>A	XP_016885095.1:p.Val2031Glu
XM_017029607.2:c.6089T>A	XP_016885096.1:p.Val2030Glu
XM_017029608.2:c.6041T>A	XP_016885097.1:p.Val2014Glu
XM_017029609.1:c.6005T>A	XP_016885098.1:p.Val2002Glu
XM_017029610.1:c.6002T>A	XP_016885099.1:p.Val2001Glu
XM_017029611.1:c.5957T>A	XP_016885100.1:p.Val1986Glu
XR_001755700.2:n.6622T>A
NM_138270.4:c.6209T>A	NP_612114.2:p.Val2070Glu
NM_000489.6:c.6323T>A MANE Select	NP_000480.3:p.Val2108Glu
NM_138270.5:c.6209T>A	NP_612114.2:p.Val2070Glu