Canonical Allele Identifier: CA10458152
Community Standard Title: NM_000489.6(ATRX):c.1844A>G (p.Tyr615Cys)
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77683412T>C , CM000685.2:g.77683412T>C GRCh38
NC_000023.10:g.76938904T>C , CM000685.1:g.76938904T>C GRCh37
NC_000023.9:g.76825560T>C NCBI36
NG_008838.2:g.107810A>G
NG_008838.3:g.107858A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000489.6:c.1844A>G MANE Select NP_000480.3:p.Tyr615Cys
ENST00000373344.11:c.1844A>G MANE Select ENSP00000362441.4:p.Tyr615Cys
NM_000489.4:c.1844A>G NP_000480.3:p.Tyr615Cys
NM_000489.5:c.1844A>G NP_000480.3:p.Tyr615Cys
NM_138270.3:c.1730A>G NP_612114.2:p.Tyr577Cys
NM_138270.4:c.1730A>G NP_612114.2:p.Tyr577Cys
NM_138270.5:c.1730A>G NP_612114.2:p.Tyr577Cys
ENST00000373344.9:c.1844A>G ENSP00000362441.4:p.Tyr615Cys
ENST00000395603.7:c.1730A>G ENSP00000378967.3:p.Tyr577Cys
ENST00000480283.5:c.*1472A>G ENSP00000480196.1:n.*1472A>G
ENST00000624032.3:c.1757A>G ENSP00000485253.1:p.Tyr586Cys
ENST00000624166.3:c.1640A>G ENSP00000485103.1:p.Tyr547Cys
XM_005262153.3:c.1841A>G XP_005262210.2:p.Tyr614Cys
XM_005262153.5:c.1841A>G XP_005262210.2:p.Tyr614Cys
XM_005262154.3:c.1757A>G XP_005262211.2:p.Tyr586Cys
XM_005262154.5:c.1757A>G XP_005262211.2:p.Tyr586Cys
XM_005262155.3:c.1727A>G XP_005262212.2:p.Tyr576Cys
XM_005262155.4:c.1727A>G XP_005262212.2:p.Tyr576Cys
XM_005262156.3:c.1679A>G XP_005262213.2:p.Tyr560Cys
XM_005262156.4:c.1679A>G XP_005262213.2:p.Tyr560Cys
XM_005262157.3:c.1640A>G XP_005262214.2:p.Tyr547Cys
XM_005262157.5:c.1640A>G XP_005262214.2:p.Tyr547Cys
XM_006724666.2:c.1727A>G XP_006724729.1:p.Tyr576Cys
XM_006724666.4:c.1727A>G XP_006724729.1:p.Tyr576Cys
XM_006724667.2:c.1565A>G XP_006724730.1:p.Tyr522Cys
XM_006724667.3:c.1565A>G XP_006724730.1:p.Tyr522Cys
XM_006724668.2:c.1844A>G XP_006724731.1:p.Tyr615Cys
XM_006724668.3:c.1844A>G XP_006724731.1:p.Tyr615Cys
XM_017029601.2:c.1754A>G XP_016885090.1:p.Tyr585Cys
XM_017029602.1:c.1724A>G XP_016885091.1:p.Tyr575Cys
XM_017029603.1:c.1676A>G XP_016885092.1:p.Tyr559Cys
XM_017029604.2:c.1643A>G XP_016885093.1:p.Tyr548Cys
XM_017029605.1:c.1640A>G XP_016885094.1:p.Tyr547Cys
XM_017029606.2:c.1613A>G XP_016885095.1:p.Tyr538Cys
XM_017029607.2:c.1610A>G XP_016885096.1:p.Tyr537Cys
XM_017029608.2:c.1562A>G XP_016885097.1:p.Tyr521Cys
XM_017029609.1:c.1526A>G XP_016885098.1:p.Tyr509Cys
XM_017029610.1:c.1523A>G XP_016885099.1:p.Tyr508Cys
XM_017029611.1:c.1478A>G XP_016885100.1:p.Tyr493Cys
XR_001755700.2:n.2069A>G
XR_938400.1:n.2112A>G