Canonical Allele Identifier: CA517374377
Gene: ATRX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.76776296G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77520818G>T , CM000685.2:g.77520818G>T GRCh38
NC_000023.10:g.76776296G>T , CM000685.1:g.76776296G>T GRCh37
NC_000023.9:g.76662952G>T NCBI36
NG_008838.2:g.270404C>A
NG_008838.3:g.270452C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7170C>A MANE Select ENSP00000362441.4:p.Ile2390=
ENST00000675732.1:c.2268C>A ENSP00000502598.1:p.Ile756=
ENST00000373344.9:c.7170C>A ENSP00000362441.4:p.Ile2390=
ENST00000395603.7:c.7056C>A ENSP00000378967.3:p.Ile2352=
ENST00000480283.5:c.*6798C>A ENSP00000480196.1:n.*6798C>A
ENST00000623706.3:n.5490C>A
ENST00000624766.1:n.401C>A
NM_000489.4:c.7170C>A NP_000480.3:p.Ile2390=
NM_138270.3:c.7056C>A NP_612114.2:p.Ile2352=
XM_005262153.3:c.7167C>A XP_005262210.2:p.Ile2389=
XM_005262154.3:c.7083C>A XP_005262211.2:p.Ile2361=
XM_005262155.3:c.7053C>A XP_005262212.2:p.Ile2351=
XM_005262156.3:c.7005C>A XP_005262213.2:p.Ile2335=
XM_005262157.3:c.6966C>A XP_005262214.2:p.Ile2322=
XM_006724666.2:c.7053C>A XP_006724729.1:p.Ile2351=
XM_006724667.2:c.6891C>A XP_006724730.1:p.Ile2297=
XR_938400.1:n.8762C>A
NM_000489.5:c.7170C>A NP_000480.3:p.Ile2390=
XM_005262153.5:c.7167C>A XP_005262210.2:p.Ile2389=
XM_005262154.5:c.7083C>A XP_005262211.2:p.Ile2361=
XM_005262155.4:c.7053C>A XP_005262212.2:p.Ile2351=
XM_005262156.4:c.7005C>A XP_005262213.2:p.Ile2335=
XM_005262157.5:c.6966C>A XP_005262214.2:p.Ile2322=
XM_006724666.4:c.7053C>A XP_006724729.1:p.Ile2351=
XM_006724667.3:c.6891C>A XP_006724730.1:p.Ile2297=
XM_017029601.2:c.7080C>A XP_016885090.1:p.Ile2360=
XM_017029602.1:c.7050C>A XP_016885091.1:p.Ile2350=
XM_017029603.1:c.7002C>A XP_016885092.1:p.Ile2334=
XM_017029604.2:c.6969C>A XP_016885093.1:p.Ile2323=
XM_017029605.1:c.6966C>A XP_016885094.1:p.Ile2322=
XM_017029606.2:c.6939C>A XP_016885095.1:p.Ile2313=
XM_017029607.2:c.6936C>A XP_016885096.1:p.Ile2312=
XM_017029608.2:c.6888C>A XP_016885097.1:p.Ile2296=
XM_017029609.1:c.6852C>A XP_016885098.1:p.Ile2284=
XM_017029610.1:c.6849C>A XP_016885099.1:p.Ile2283=
XM_017029611.1:c.6804C>A XP_016885100.1:p.Ile2268=
XR_001755700.2:n.7469C>A
NM_138270.4:c.7056C>A NP_612114.2:p.Ile2352=
NM_000489.6:c.7170C>A MANE Select NP_000480.3:p.Ile2390=
NM_138270.5:c.7056C>A NP_612114.2:p.Ile2352=