Canonical Allele Identifier: CA1680191943
Gene: CEP43 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167024828G= , CM000668.2:g.167024828G= GRCh38
NC_000006.11:g.167438316G= , CM000668.1:g.167438316G= GRCh37
NC_000006.10:g.167358306G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000349556.5:c.793G= ENSP00000230248.6:p.Asp265=
ENST00000488525.2:c.849G= ENSP00000516042.1:p.Arg283=
ENST00000609590.2:n.1725G=
ENST00000704900.1:c.430G= ENSP00000516059.1:p.Asp144=
ENST00000704901.1:c.*440G= ENSP00000516060.1:n.*440G=
ENST00000704959.1:n.1118G=
ENST00000704982.1:n.1563G=
ENST00000704985.1:n.1959G=
ENST00000704986.1:n.1959G=
ENST00000705029.1:n.1684G=
ENST00000705059.1:n.1508G=
ENST00000705168.1:c.106G= ENSP00000516071.1:p.Asp36=
ENST00000705169.1:c.106G= ENSP00000516072.1:p.Asp36=
ENST00000705170.1:c.106G= ENSP00000516073.1:p.Asp36=
ENST00000705171.1:n.898G=
ENST00000705173.1:c.*162G= ENSP00000516075.1:n.*162G=
ENST00000705175.1:c.979G= ENSP00000516077.1:p.Asp327=
ENST00000705176.1:c.1039G= ENSP00000516078.1:p.Asp347=
ENST00000705177.1:c.*437G= ENSP00000516079.1:n.*437G=
ENST00000705178.1:c.376G= ENSP00000516080.1:p.Asp126=
ENST00000705179.1:c.571G= ENSP00000516081.1:p.Asp191=
ENST00000705180.1:c.511G= ENSP00000516082.1:p.Asp171=
ENST00000705235.1:c.853G= ENSP00000516093.1:p.Asp285=
ENST00000705236.1:c.793G= ENSP00000516094.1:p.Asp265=
ENST00000705237.1:c.511G= ENSP00000516095.1:p.Asp171=
ENST00000705238.1:c.712G= ENSP00000516096.1:p.Asp238=
ENST00000705239.1:c.790G= ENSP00000516097.1:p.Asp264=
ENST00000705240.1:c.*462G= ENSP00000516098.1:n.*462G=
ENST00000705241.1:c.789G= ENSP00000516099.1:p.Arg263=
ENST00000705242.1:c.790G= ENSP00000516100.1:p.Asp264=
ENST00000705249.1:c.793G= ENSP00000516101.1:p.Asp265=
ENST00000705250.1:c.571G= ENSP00000516102.1:p.Asp191=
ENST00000705251.1:c.*440G= ENSP00000516103.1:n.*440G=
ENST00000705252.1:c.*263G= ENSP00000516104.1:n.*263G=
ENST00000705253.1:c.*263G= ENSP00000516105.1:n.*263G=
ENST00000705254.1:c.400G= ENSP00000516106.1:p.Asp134=
ENST00000705255.1:n.1419G=
ENST00000705256.1:c.850G= ENSP00000516107.1:p.Asp284=
ENST00000366847.9:c.853G= MANE Select ENSP00000355812.3:p.Asp285=
ENST00000349556.4:c.793G= ENSP00000230248.6:p.Asp265=
ENST00000366847.8:c.853G= ENSP00000355812.3:p.Asp285=
ENST00000488525.1:n.39G=
ENST00000496181.1:n.257G=
ENST00000622353.4:c.712G= ENSP00000479115.1:p.Asp238=
NM_001278690.1:c.712G= NP_001265619.1:p.Asp238=
NM_007045.3:c.853G= NP_008976.1:p.Asp285=
NM_194429.2:c.793G= NP_919410.1:p.Asp265=
NM_007045.4:c.853G= MANE Select NP_008976.1:p.Asp285=
NM_194429.3:c.793G= NP_919410.1:p.Asp265=
NM_001278690.2:c.712G= NP_001265619.1:p.Asp238=