Canonical Allele Identifier: CA8429792
Community Standard Title: NM_004618.5(TOP3A):c.1723A>G (p.Met575Val)
Gene: TOP3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18285296T>C , CM000679.2:g.18285296T>C GRCh38
NC_000017.10:g.18188610T>C , CM000679.1:g.18188610T>C GRCh37
NC_000017.9:g.18129335T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_004618.5:c.1723A>G MANE Select NP_004609.1:p.Met575Val
ENST00000321105.10:c.1723A>G MANE Select ENSP00000321636.5:p.Met575Val
NM_001320759.1:c.1438A>G NP_001307688.1:p.Met480Val
NM_001320759.2:c.1438A>G NP_001307688.1:p.Met480Val
NM_004618.3:c.1723A>G NP_004609.1:p.Met575Val
NM_004618.4:c.1723A>G NP_004609.1:p.Met575Val
ENST00000321105.9:c.1723A>G ENSP00000321636.5:p.Met575Val
ENST00000469739.6:n.1078A>G
ENST00000542570.5:c.1723A>G ENSP00000442336.2:p.Met575Val
ENST00000580095.5:c.1648A>G ENSP00000462790.1:p.Met550Val
ENST00000582122.1:c.348A>G ENSP00000466099.1:p.Pro116=
ENST00000582981.5:c.*1379A>G ENSP00000462378.1:n.*1379A>G
ENST00000584582.5:c.*1379A>G ENSP00000462136.1:n.*1379A>G
XM_005256776.2:c.1438A>G XP_005256833.1:p.Met480Val
XM_011524001.1:c.313A>G XP_011522303.1:p.Met105Val
XM_011524001.2:c.313A>G XP_011522303.1:p.Met105Val
XM_024450903.1:c.802A>G XP_024306671.1:p.Met268Val
XR_001752601.2:n.1998A>G