Canonical Allele Identifier: CA517374039
Gene: ATRX HGNC NCBI

Linked Data

dbSNP Id: rs782050050
MyVariant Identifiers: chrX:g.76763910A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77508432A>G , CM000685.2:g.77508432A>G GRCh38
NC_000023.10:g.76763910A>G , CM000685.1:g.76763910A>G GRCh37
NC_000023.9:g.76650566A>G NCBI36
NG_008838.2:g.282790T>C
NG_008838.3:g.282838T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7398T>C MANE Select ENSP00000362441.4:p.Gly2466=
ENST00000675732.1:c.2496T>C ENSP00000502598.1:p.Gly832=
ENST00000373344.9:c.7398T>C ENSP00000362441.4:p.Gly2466=
ENST00000395603.7:c.7284T>C ENSP00000378967.3:p.Gly2428=
ENST00000480283.5:c.*7026T>C ENSP00000480196.1:n.*7026T>C
ENST00000623706.3:n.5718T>C
NM_000489.4:c.7398T>C NP_000480.3:p.Gly2466=
NM_138270.3:c.7284T>C NP_612114.2:p.Gly2428=
XM_005262153.3:c.7395T>C XP_005262210.2:p.Gly2465=
XM_005262154.3:c.7311T>C XP_005262211.2:p.Gly2437=
XM_005262155.3:c.7281T>C XP_005262212.2:p.Gly2427=
XM_005262156.3:c.7233T>C XP_005262213.2:p.Gly2411=
XM_005262157.3:c.7194T>C XP_005262214.2:p.Gly2398=
XM_006724666.2:c.7281T>C XP_006724729.1:p.Gly2427=
XM_006724667.2:c.7119T>C XP_006724730.1:p.Gly2373=
XR_938400.1:n.8990T>C
NM_000489.5:c.7398T>C NP_000480.3:p.Gly2466=
XM_005262153.5:c.7395T>C XP_005262210.2:p.Gly2465=
XM_005262154.5:c.7311T>C XP_005262211.2:p.Gly2437=
XM_005262155.4:c.7281T>C XP_005262212.2:p.Gly2427=
XM_005262156.4:c.7233T>C XP_005262213.2:p.Gly2411=
XM_005262157.5:c.7194T>C XP_005262214.2:p.Gly2398=
XM_006724666.4:c.7281T>C XP_006724729.1:p.Gly2427=
XM_006724667.3:c.7119T>C XP_006724730.1:p.Gly2373=
XM_017029601.2:c.7308T>C XP_016885090.1:p.Gly2436=
XM_017029602.1:c.7278T>C XP_016885091.1:p.Gly2426=
XM_017029603.1:c.7230T>C XP_016885092.1:p.Gly2410=
XM_017029604.2:c.7197T>C XP_016885093.1:p.Gly2399=
XM_017029605.1:c.7194T>C XP_016885094.1:p.Gly2398=
XM_017029606.2:c.7167T>C XP_016885095.1:p.Gly2389=
XM_017029607.2:c.7164T>C XP_016885096.1:p.Gly2388=
XM_017029608.2:c.7116T>C XP_016885097.1:p.Gly2372=
XM_017029609.1:c.7080T>C XP_016885098.1:p.Gly2360=
XM_017029610.1:c.7077T>C XP_016885099.1:p.Gly2359=
XM_017029611.1:c.7032T>C XP_016885100.1:p.Gly2344=
XR_001755700.2:n.7697T>C
NM_138270.4:c.7284T>C NP_612114.2:p.Gly2428=
NM_000489.6:c.7398T>C MANE Select NP_000480.3:p.Gly2466=
NM_138270.5:c.7284T>C NP_612114.2:p.Gly2428=