Canonical Allele Identifier: CA517374134
Gene: ATRX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.76763991T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77508513T>G , CM000685.2:g.77508513T>G GRCh38
NC_000023.10:g.76763991T>G , CM000685.1:g.76763991T>G GRCh37
NC_000023.9:g.76650647T>G NCBI36
NG_008838.2:g.282709A>C
NG_008838.3:g.282757A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7317A>C MANE Select ENSP00000362441.4:p.Pro2439=
ENST00000675732.1:c.2415A>C ENSP00000502598.1:p.Pro805=
ENST00000373344.9:c.7317A>C ENSP00000362441.4:p.Pro2439=
ENST00000395603.7:c.7203A>C ENSP00000378967.3:p.Pro2401=
ENST00000480283.5:c.*6945A>C ENSP00000480196.1:n.*6945A>C
ENST00000623706.3:n.5637A>C
ENST00000624766.1:n.548A>C
NM_000489.4:c.7317A>C NP_000480.3:p.Pro2439=
NM_138270.3:c.7203A>C NP_612114.2:p.Pro2401=
XM_005262153.3:c.7314A>C XP_005262210.2:p.Pro2438=
XM_005262154.3:c.7230A>C XP_005262211.2:p.Pro2410=
XM_005262155.3:c.7200A>C XP_005262212.2:p.Pro2400=
XM_005262156.3:c.7152A>C XP_005262213.2:p.Pro2384=
XM_005262157.3:c.7113A>C XP_005262214.2:p.Pro2371=
XM_006724666.2:c.7200A>C XP_006724729.1:p.Pro2400=
XM_006724667.2:c.7038A>C XP_006724730.1:p.Pro2346=
XR_938400.1:n.8909A>C
NM_000489.5:c.7317A>C NP_000480.3:p.Pro2439=
XM_005262153.5:c.7314A>C XP_005262210.2:p.Pro2438=
XM_005262154.5:c.7230A>C XP_005262211.2:p.Pro2410=
XM_005262155.4:c.7200A>C XP_005262212.2:p.Pro2400=
XM_005262156.4:c.7152A>C XP_005262213.2:p.Pro2384=
XM_005262157.5:c.7113A>C XP_005262214.2:p.Pro2371=
XM_006724666.4:c.7200A>C XP_006724729.1:p.Pro2400=
XM_006724667.3:c.7038A>C XP_006724730.1:p.Pro2346=
XM_017029601.2:c.7227A>C XP_016885090.1:p.Pro2409=
XM_017029602.1:c.7197A>C XP_016885091.1:p.Pro2399=
XM_017029603.1:c.7149A>C XP_016885092.1:p.Pro2383=
XM_017029604.2:c.7116A>C XP_016885093.1:p.Pro2372=
XM_017029605.1:c.7113A>C XP_016885094.1:p.Pro2371=
XM_017029606.2:c.7086A>C XP_016885095.1:p.Pro2362=
XM_017029607.2:c.7083A>C XP_016885096.1:p.Pro2361=
XM_017029608.2:c.7035A>C XP_016885097.1:p.Pro2345=
XM_017029609.1:c.6999A>C XP_016885098.1:p.Pro2333=
XM_017029610.1:c.6996A>C XP_016885099.1:p.Pro2332=
XM_017029611.1:c.6951A>C XP_016885100.1:p.Pro2317=
XR_001755700.2:n.7616A>C
NM_138270.4:c.7203A>C NP_612114.2:p.Pro2401=
NM_000489.6:c.7317A>C MANE Select NP_000480.3:p.Pro2439=
NM_138270.5:c.7203A>C NP_612114.2:p.Pro2401=