Canonical Allele Identifier: CA517374116
Gene: ATRX HGNC NCBI

Linked Data

ClinVar Variation Id: 1616493
ClinVar RCV Id: RCV002074935
dbSNP Id: rs2147649397
gnomAD v4: X-77508498-C-T
MyVariant Identifiers: chrX:g.76763976C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77508498C>T , CM000685.2:g.77508498C>T GRCh38
NC_000023.10:g.76763976C>T , CM000685.1:g.76763976C>T GRCh37
NC_000023.9:g.76650632C>T NCBI36
NG_008838.2:g.282724G>A
NG_008838.3:g.282772G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7332G>A MANE Select ENSP00000362441.4:p.Leu2444=
ENST00000675732.1:c.2430G>A ENSP00000502598.1:p.Leu810=
ENST00000373344.9:c.7332G>A ENSP00000362441.4:p.Leu2444=
ENST00000395603.7:c.7218G>A ENSP00000378967.3:p.Leu2406=
ENST00000480283.5:c.*6960G>A ENSP00000480196.1:n.*6960G>A
ENST00000623706.3:n.5652G>A
ENST00000624766.1:n.563G>A
NM_000489.4:c.7332G>A NP_000480.3:p.Leu2444=
NM_138270.3:c.7218G>A NP_612114.2:p.Leu2406=
XM_005262153.3:c.7329G>A XP_005262210.2:p.Leu2443=
XM_005262154.3:c.7245G>A XP_005262211.2:p.Leu2415=
XM_005262155.3:c.7215G>A XP_005262212.2:p.Leu2405=
XM_005262156.3:c.7167G>A XP_005262213.2:p.Leu2389=
XM_005262157.3:c.7128G>A XP_005262214.2:p.Leu2376=
XM_006724666.2:c.7215G>A XP_006724729.1:p.Leu2405=
XM_006724667.2:c.7053G>A XP_006724730.1:p.Leu2351=
XR_938400.1:n.8924G>A
NM_000489.5:c.7332G>A NP_000480.3:p.Leu2444=
XM_005262153.5:c.7329G>A XP_005262210.2:p.Leu2443=
XM_005262154.5:c.7245G>A XP_005262211.2:p.Leu2415=
XM_005262155.4:c.7215G>A XP_005262212.2:p.Leu2405=
XM_005262156.4:c.7167G>A XP_005262213.2:p.Leu2389=
XM_005262157.5:c.7128G>A XP_005262214.2:p.Leu2376=
XM_006724666.4:c.7215G>A XP_006724729.1:p.Leu2405=
XM_006724667.3:c.7053G>A XP_006724730.1:p.Leu2351=
XM_017029601.2:c.7242G>A XP_016885090.1:p.Leu2414=
XM_017029602.1:c.7212G>A XP_016885091.1:p.Leu2404=
XM_017029603.1:c.7164G>A XP_016885092.1:p.Leu2388=
XM_017029604.2:c.7131G>A XP_016885093.1:p.Leu2377=
XM_017029605.1:c.7128G>A XP_016885094.1:p.Leu2376=
XM_017029606.2:c.7101G>A XP_016885095.1:p.Leu2367=
XM_017029607.2:c.7098G>A XP_016885096.1:p.Leu2366=
XM_017029608.2:c.7050G>A XP_016885097.1:p.Leu2350=
XM_017029609.1:c.7014G>A XP_016885098.1:p.Leu2338=
XM_017029610.1:c.7011G>A XP_016885099.1:p.Leu2337=
XM_017029611.1:c.6966G>A XP_016885100.1:p.Leu2322=
XR_001755700.2:n.7631G>A
NM_138270.4:c.7218G>A NP_612114.2:p.Leu2406=
NM_000489.6:c.7332G>A MANE Select NP_000480.3:p.Leu2444=
NM_138270.5:c.7218G>A NP_612114.2:p.Leu2406=