Canonical Allele Identifier: CA413703461
Community Standard Title: NM_000489.6(ATRX):c.5048A>G (p.Tyr1683Cys)
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77633293T>C , CM000685.2:g.77633293T>C GRCh38
NC_000023.10:g.76888781T>C , CM000685.1:g.76888781T>C GRCh37
NC_000023.9:g.76775437T>C NCBI36
NG_008838.2:g.157929A>G
NG_008838.3:g.157977A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000489.6:c.5048A>G MANE Select NP_000480.3:p.Tyr1683Cys
ENST00000373344.11:c.5048A>G MANE Select ENSP00000362441.4:p.Tyr1683Cys
NM_000489.4:c.5048A>G NP_000480.3:p.Tyr1683Cys
NM_000489.5:c.5048A>G NP_000480.3:p.Tyr1683Cys
NM_138270.3:c.4934A>G NP_612114.2:p.Tyr1645Cys
NM_138270.4:c.4934A>G NP_612114.2:p.Tyr1645Cys
NM_138270.5:c.4934A>G NP_612114.2:p.Tyr1645Cys
ENST00000373344.9:c.5048A>G ENSP00000362441.4:p.Tyr1683Cys
ENST00000395603.7:c.4934A>G ENSP00000378967.3:p.Tyr1645Cys
ENST00000400866.4:c.29A>G ENSP00000383663.3:p.Tyr10Cys
ENST00000480283.5:c.*4676A>G ENSP00000480196.1:n.*4676A>G
ENST00000624403.1:n.392A>G
ENST00000675732.1:c.146A>G ENSP00000502598.1:p.Tyr49Cys
ENST00000675908.1:n.783A>G
XM_005262153.3:c.5045A>G XP_005262210.2:p.Tyr1682Cys
XM_005262153.5:c.5045A>G XP_005262210.2:p.Tyr1682Cys
XM_005262154.3:c.4961A>G XP_005262211.2:p.Tyr1654Cys
XM_005262154.5:c.4961A>G XP_005262211.2:p.Tyr1654Cys
XM_005262155.3:c.4931A>G XP_005262212.2:p.Tyr1644Cys
XM_005262155.4:c.4931A>G XP_005262212.2:p.Tyr1644Cys
XM_005262156.3:c.4883A>G XP_005262213.2:p.Tyr1628Cys
XM_005262156.4:c.4883A>G XP_005262213.2:p.Tyr1628Cys
XM_005262157.3:c.4844A>G XP_005262214.2:p.Tyr1615Cys
XM_005262157.5:c.4844A>G XP_005262214.2:p.Tyr1615Cys
XM_006724666.2:c.4931A>G XP_006724729.1:p.Tyr1644Cys
XM_006724666.4:c.4931A>G XP_006724729.1:p.Tyr1644Cys
XM_006724667.2:c.4769A>G XP_006724730.1:p.Tyr1590Cys
XM_006724667.3:c.4769A>G XP_006724730.1:p.Tyr1590Cys
XM_006724668.2:c.5048A>G XP_006724731.1:p.Tyr1683Cys
XM_006724668.3:c.5048A>G XP_006724731.1:p.Tyr1683Cys
XM_017029601.2:c.4958A>G XP_016885090.1:p.Tyr1653Cys
XM_017029602.1:c.4928A>G XP_016885091.1:p.Tyr1643Cys
XM_017029603.1:c.4880A>G XP_016885092.1:p.Tyr1627Cys
XM_017029604.2:c.4847A>G XP_016885093.1:p.Tyr1616Cys
XM_017029605.1:c.4844A>G XP_016885094.1:p.Tyr1615Cys
XM_017029606.2:c.4817A>G XP_016885095.1:p.Tyr1606Cys
XM_017029607.2:c.4814A>G XP_016885096.1:p.Tyr1605Cys
XM_017029608.2:c.4766A>G XP_016885097.1:p.Tyr1589Cys
XM_017029609.1:c.4730A>G XP_016885098.1:p.Tyr1577Cys
XM_017029610.1:c.4727A>G XP_016885099.1:p.Tyr1576Cys
XM_017029611.1:c.4682A>G XP_016885100.1:p.Tyr1561Cys
XR_001755700.2:n.5273A>G
XR_938400.1:n.5316A>G