Canonical Allele Identifier: CA413704966

Gene: ATRX

Linked Data

• dbSNP Id: rs2147651828
• MyVariant Identifiers: chrX:g.76764051A>T (hg19) ; chrX:g.77508573A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508573A>T , CM000685.2:g.77508573A>T	GRCh38
NC_000023.10:g.76764051A>T , CM000685.1:g.76764051A>T	GRCh37
NC_000023.9:g.76650707A>T	NCBI36
NG_008838.2:g.282649T>A
NG_008838.3:g.282697T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7257T>A MANE Select	ENSP00000362441.4:p.Asn2419Lys
ENST00000675732.1:c.2355T>A	ENSP00000502598.1:p.Asn785Lys
ENST00000373344.9:c.7257T>A	ENSP00000362441.4:p.Asn2419Lys
ENST00000395603.7:c.7143T>A	ENSP00000378967.3:p.Asn2381Lys
ENST00000480283.5:c.*6885T>A	ENSP00000480196.1:n.*6885T>A
ENST00000623706.3:n.5577T>A
ENST00000624766.1:n.488T>A
NM_000489.4:c.7257T>A	NP_000480.3:p.Asn2419Lys
NM_138270.3:c.7143T>A	NP_612114.2:p.Asn2381Lys
XM_005262153.3:c.7254T>A	XP_005262210.2:p.Asn2418Lys
XM_005262154.3:c.7170T>A	XP_005262211.2:p.Asn2390Lys
XM_005262155.3:c.7140T>A	XP_005262212.2:p.Asn2380Lys
XM_005262156.3:c.7092T>A	XP_005262213.2:p.Asn2364Lys
XM_005262157.3:c.7053T>A	XP_005262214.2:p.Asn2351Lys
XM_006724666.2:c.7140T>A	XP_006724729.1:p.Asn2380Lys
XM_006724667.2:c.6978T>A	XP_006724730.1:p.Asn2326Lys
XR_938400.1:n.8849T>A
NM_000489.5:c.7257T>A	NP_000480.3:p.Asn2419Lys
XM_005262153.5:c.7254T>A	XP_005262210.2:p.Asn2418Lys
XM_005262154.5:c.7170T>A	XP_005262211.2:p.Asn2390Lys
XM_005262155.4:c.7140T>A	XP_005262212.2:p.Asn2380Lys
XM_005262156.4:c.7092T>A	XP_005262213.2:p.Asn2364Lys
XM_005262157.5:c.7053T>A	XP_005262214.2:p.Asn2351Lys
XM_006724666.4:c.7140T>A	XP_006724729.1:p.Asn2380Lys
XM_006724667.3:c.6978T>A	XP_006724730.1:p.Asn2326Lys
XM_017029601.2:c.7167T>A	XP_016885090.1:p.Asn2389Lys
XM_017029602.1:c.7137T>A	XP_016885091.1:p.Asn2379Lys
XM_017029603.1:c.7089T>A	XP_016885092.1:p.Asn2363Lys
XM_017029604.2:c.7056T>A	XP_016885093.1:p.Asn2352Lys
XM_017029605.1:c.7053T>A	XP_016885094.1:p.Asn2351Lys
XM_017029606.2:c.7026T>A	XP_016885095.1:p.Asn2342Lys
XM_017029607.2:c.7023T>A	XP_016885096.1:p.Asn2341Lys
XM_017029608.2:c.6975T>A	XP_016885097.1:p.Asn2325Lys
XM_017029609.1:c.6939T>A	XP_016885098.1:p.Asn2313Lys
XM_017029610.1:c.6936T>A	XP_016885099.1:p.Asn2312Lys
XM_017029611.1:c.6891T>A	XP_016885100.1:p.Asn2297Lys
XR_001755700.2:n.7556T>A
NM_138270.4:c.7143T>A	NP_612114.2:p.Asn2381Lys
NM_000489.6:c.7257T>A MANE Select	NP_000480.3:p.Asn2419Lys
NM_138270.5:c.7143T>A	NP_612114.2:p.Asn2381Lys