Canonical Allele Identifier: CA1680191940
Gene: CEP43 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167024827G= , CM000668.2:g.167024827G= GRCh38
NC_000006.11:g.167438315G= , CM000668.1:g.167438315G= GRCh37
NC_000006.10:g.167358305G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000349556.5:c.792G= ENSP00000230248.6:p.Ser264=
ENST00000488525.2:c.848G= ENSP00000516042.1:p.Arg283=
ENST00000609590.2:n.1724G=
ENST00000704900.1:c.429G= ENSP00000516059.1:p.Ser143=
ENST00000704901.1:c.*439G= ENSP00000516060.1:n.*439G=
ENST00000704959.1:n.1117G=
ENST00000704982.1:n.1562G=
ENST00000704985.1:n.1958G=
ENST00000704986.1:n.1958G=
ENST00000705029.1:n.1683G=
ENST00000705059.1:n.1507G=
ENST00000705168.1:c.105G= ENSP00000516071.1:p.Ser35=
ENST00000705169.1:c.105G= ENSP00000516072.1:p.Ser35=
ENST00000705170.1:c.105G= ENSP00000516073.1:p.Ser35=
ENST00000705171.1:n.897G=
ENST00000705173.1:c.*161G= ENSP00000516075.1:n.*161G=
ENST00000705175.1:c.978G= ENSP00000516077.1:p.Ser326=
ENST00000705176.1:c.1038G= ENSP00000516078.1:p.Ser346=
ENST00000705177.1:c.*436G= ENSP00000516079.1:n.*436G=
ENST00000705178.1:c.375G= ENSP00000516080.1:p.Ser125=
ENST00000705179.1:c.570G= ENSP00000516081.1:p.Ser190=
ENST00000705180.1:c.510G= ENSP00000516082.1:p.Ser170=
ENST00000705235.1:c.852G= ENSP00000516093.1:p.Ser284=
ENST00000705236.1:c.792G= ENSP00000516094.1:p.Ser264=
ENST00000705237.1:c.510G= ENSP00000516095.1:p.Ser170=
ENST00000705238.1:c.711G= ENSP00000516096.1:p.Ser237=
ENST00000705239.1:c.789G= ENSP00000516097.1:p.Ser263=
ENST00000705240.1:c.*461G= ENSP00000516098.1:n.*461G=
ENST00000705241.1:c.788G= ENSP00000516099.1:p.Arg263=
ENST00000705242.1:c.789G= ENSP00000516100.1:p.Ser263=
ENST00000705249.1:c.792G= ENSP00000516101.1:p.Ser264=
ENST00000705250.1:c.570G= ENSP00000516102.1:p.Ser190=
ENST00000705251.1:c.*439G= ENSP00000516103.1:n.*439G=
ENST00000705252.1:c.*262G= ENSP00000516104.1:n.*262G=
ENST00000705253.1:c.*262G= ENSP00000516105.1:n.*262G=
ENST00000705254.1:c.399G= ENSP00000516106.1:p.Ser133=
ENST00000705255.1:n.1418G=
ENST00000705256.1:c.849G= ENSP00000516107.1:p.Ser283=
ENST00000366847.9:c.852G= MANE Select ENSP00000355812.3:p.Ser284=
ENST00000349556.4:c.792G= ENSP00000230248.6:p.Ser264=
ENST00000366847.8:c.852G= ENSP00000355812.3:p.Ser284=
ENST00000488525.1:n.38G=
ENST00000496181.1:n.256G=
ENST00000622353.4:c.711G= ENSP00000479115.1:p.Ser237=
NM_001278690.1:c.711G= NP_001265619.1:p.Ser237=
NM_007045.3:c.852G= NP_008976.1:p.Ser284=
NM_194429.2:c.792G= NP_919410.1:p.Ser264=
NM_007045.4:c.852G= MANE Select NP_008976.1:p.Ser284=
NM_194429.3:c.792G= NP_919410.1:p.Ser264=
NM_001278690.2:c.711G= NP_001265619.1:p.Ser237=