Canonical Allele Identifier: CA413701237

Gene: ATRX

Linked Data

• ClinVar Variation Id: 2128250
• ClinVar RCV Id: RCV003055904
• MyVariant Identifiers: chrX:g.76829800T>A (hg19) ; chrX:g.77574335T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574335T>A , CM000685.2:g.77574335T>A	GRCh38
NC_000023.10:g.76829800T>A , CM000685.1:g.76829800T>A	GRCh37
NC_000023.9:g.76716456T>A	NCBI36
NG_008838.2:g.216887A>T
NG_008838.3:g.216935A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6241A>T MANE Select	ENSP00000362441.4:p.Ile2081Phe
ENST00000636152.1:n.76A>T
ENST00000675732.1:c.1339A>T	ENSP00000502598.1:p.Ile447Phe
ENST00000373344.9:c.6241A>T	ENSP00000362441.4:p.Ile2081Phe
ENST00000395603.7:c.6127A>T	ENSP00000378967.3:p.Ile2043Phe
ENST00000480283.5:c.*5869A>T	ENSP00000480196.1:n.*5869A>T
ENST00000623316.1:c.725A>T
ENST00000623706.3:n.3311A>T
NM_000489.4:c.6241A>T	NP_000480.3:p.Ile2081Phe
NM_138270.3:c.6127A>T	NP_612114.2:p.Ile2043Phe
XM_005262153.3:c.6238A>T	XP_005262210.2:p.Ile2080Phe
XM_005262154.3:c.6154A>T	XP_005262211.2:p.Ile2052Phe
XM_005262155.3:c.6124A>T	XP_005262212.2:p.Ile2042Phe
XM_005262156.3:c.6076A>T	XP_005262213.2:p.Ile2026Phe
XM_005262157.3:c.6037A>T	XP_005262214.2:p.Ile2013Phe
XM_006724666.2:c.6124A>T	XP_006724729.1:p.Ile2042Phe
XM_006724667.2:c.5962A>T	XP_006724730.1:p.Ile1988Phe
XR_938400.1:n.6583A>T
NM_000489.5:c.6241A>T	NP_000480.3:p.Ile2081Phe
XM_005262153.5:c.6238A>T	XP_005262210.2:p.Ile2080Phe
XM_005262154.5:c.6154A>T	XP_005262211.2:p.Ile2052Phe
XM_005262155.4:c.6124A>T	XP_005262212.2:p.Ile2042Phe
XM_005262156.4:c.6076A>T	XP_005262213.2:p.Ile2026Phe
XM_005262157.5:c.6037A>T	XP_005262214.2:p.Ile2013Phe
XM_006724666.4:c.6124A>T	XP_006724729.1:p.Ile2042Phe
XM_006724667.3:c.5962A>T	XP_006724730.1:p.Ile1988Phe
XM_017029601.2:c.6151A>T	XP_016885090.1:p.Ile2051Phe
XM_017029602.1:c.6121A>T	XP_016885091.1:p.Ile2041Phe
XM_017029603.1:c.6073A>T	XP_016885092.1:p.Ile2025Phe
XM_017029604.2:c.6040A>T	XP_016885093.1:p.Ile2014Phe
XM_017029605.1:c.6037A>T	XP_016885094.1:p.Ile2013Phe
XM_017029606.2:c.6010A>T	XP_016885095.1:p.Ile2004Phe
XM_017029607.2:c.6007A>T	XP_016885096.1:p.Ile2003Phe
XM_017029608.2:c.5959A>T	XP_016885097.1:p.Ile1987Phe
XM_017029609.1:c.5923A>T	XP_016885098.1:p.Ile1975Phe
XM_017029610.1:c.5920A>T	XP_016885099.1:p.Ile1974Phe
XM_017029611.1:c.5875A>T	XP_016885100.1:p.Ile1959Phe
XR_001755700.2:n.6540A>T
NM_138270.4:c.6127A>T	NP_612114.2:p.Ile2043Phe
NM_000489.6:c.6241A>T MANE Select	NP_000480.3:p.Ile2081Phe
NM_138270.5:c.6127A>T	NP_612114.2:p.Ile2043Phe