Canonical Allele Identifier: CA413704048

Gene: ATRX

Linked Data

• ClinVar Variation Id: 2769039
• ClinVar RCV Id: RCV003512706
• MyVariant Identifiers: chrX:g.76763935C>A (hg19) ; chrX:g.77508457C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508457C>A , CM000685.2:g.77508457C>A	GRCh38
NC_000023.10:g.76763935C>A , CM000685.1:g.76763935C>A	GRCh37
NC_000023.9:g.76650591C>A	NCBI36
NG_008838.2:g.282765G>T
NG_008838.3:g.282813G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7373G>T MANE Select	ENSP00000362441.4:p.Gly2458Val
ENST00000675732.1:c.2471G>T	ENSP00000502598.1:p.Gly824Val
ENST00000373344.9:c.7373G>T	ENSP00000362441.4:p.Gly2458Val
ENST00000395603.7:c.7259G>T	ENSP00000378967.3:p.Gly2420Val
ENST00000480283.5:c.*7001G>T	ENSP00000480196.1:n.*7001G>T
ENST00000623706.3:n.5693G>T
NM_000489.4:c.7373G>T	NP_000480.3:p.Gly2458Val
NM_138270.3:c.7259G>T	NP_612114.2:p.Gly2420Val
XM_005262153.3:c.7370G>T	XP_005262210.2:p.Gly2457Val
XM_005262154.3:c.7286G>T	XP_005262211.2:p.Gly2429Val
XM_005262155.3:c.7256G>T	XP_005262212.2:p.Gly2419Val
XM_005262156.3:c.7208G>T	XP_005262213.2:p.Gly2403Val
XM_005262157.3:c.7169G>T	XP_005262214.2:p.Gly2390Val
XM_006724666.2:c.7256G>T	XP_006724729.1:p.Gly2419Val
XM_006724667.2:c.7094G>T	XP_006724730.1:p.Gly2365Val
XR_938400.1:n.8965G>T
NM_000489.5:c.7373G>T	NP_000480.3:p.Gly2458Val
XM_005262153.5:c.7370G>T	XP_005262210.2:p.Gly2457Val
XM_005262154.5:c.7286G>T	XP_005262211.2:p.Gly2429Val
XM_005262155.4:c.7256G>T	XP_005262212.2:p.Gly2419Val
XM_005262156.4:c.7208G>T	XP_005262213.2:p.Gly2403Val
XM_005262157.5:c.7169G>T	XP_005262214.2:p.Gly2390Val
XM_006724666.4:c.7256G>T	XP_006724729.1:p.Gly2419Val
XM_006724667.3:c.7094G>T	XP_006724730.1:p.Gly2365Val
XM_017029601.2:c.7283G>T	XP_016885090.1:p.Gly2428Val
XM_017029602.1:c.7253G>T	XP_016885091.1:p.Gly2418Val
XM_017029603.1:c.7205G>T	XP_016885092.1:p.Gly2402Val
XM_017029604.2:c.7172G>T	XP_016885093.1:p.Gly2391Val
XM_017029605.1:c.7169G>T	XP_016885094.1:p.Gly2390Val
XM_017029606.2:c.7142G>T	XP_016885095.1:p.Gly2381Val
XM_017029607.2:c.7139G>T	XP_016885096.1:p.Gly2380Val
XM_017029608.2:c.7091G>T	XP_016885097.1:p.Gly2364Val
XM_017029609.1:c.7055G>T	XP_016885098.1:p.Gly2352Val
XM_017029610.1:c.7052G>T	XP_016885099.1:p.Gly2351Val
XM_017029611.1:c.7007G>T	XP_016885100.1:p.Gly2336Val
XR_001755700.2:n.7672G>T
NM_138270.4:c.7259G>T	NP_612114.2:p.Gly2420Val
NM_000489.6:c.7373G>T MANE Select	NP_000480.3:p.Gly2458Val
NM_138270.5:c.7259G>T	NP_612114.2:p.Gly2420Val