Canonical Allele Identifier: CA1680191977
Gene: CEP43 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167024848T= , CM000668.2:g.167024848T= GRCh38
NC_000006.11:g.167438336T= , CM000668.1:g.167438336T= GRCh37
NC_000006.10:g.167358326T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000349556.5:c.813T= ENSP00000230248.6:p.Ser271=
ENST00000488525.2:c.*5T= ENSP00000516042.1:n.*5T=
ENST00000609590.2:n.1745T=
ENST00000704900.1:c.450T= ENSP00000516059.1:p.Ser150=
ENST00000704901.1:c.*460T= ENSP00000516060.1:n.*460T=
ENST00000704959.1:n.1138T=
ENST00000704982.1:n.1583T=
ENST00000704985.1:n.1979T=
ENST00000704986.1:n.1979T=
ENST00000705029.1:n.1704T=
ENST00000705059.1:n.1528T=
ENST00000705168.1:c.126T= ENSP00000516071.1:p.Ser42=
ENST00000705169.1:c.126T= ENSP00000516072.1:p.Ser42=
ENST00000705170.1:c.126T= ENSP00000516073.1:p.Ser42=
ENST00000705171.1:n.918T=
ENST00000705173.1:c.*182T= ENSP00000516075.1:n.*182T=
ENST00000705175.1:c.999T= ENSP00000516077.1:p.Ser333=
ENST00000705176.1:c.1059T= ENSP00000516078.1:p.Ser353=
ENST00000705177.1:c.*457T= ENSP00000516079.1:n.*457T=
ENST00000705178.1:c.396T= ENSP00000516080.1:p.Ser132=
ENST00000705179.1:c.591T= ENSP00000516081.1:p.Ser197=
ENST00000705180.1:c.531T= ENSP00000516082.1:p.Ser177=
ENST00000705235.1:c.873T= ENSP00000516093.1:p.Ser291=
ENST00000705236.1:c.813T= ENSP00000516094.1:p.Ser271=
ENST00000705237.1:c.531T= ENSP00000516095.1:p.Ser177=
ENST00000705238.1:c.732T= ENSP00000516096.1:p.Ser244=
ENST00000705239.1:c.810T= ENSP00000516097.1:p.Ser270=
ENST00000705240.1:c.*482T= ENSP00000516098.1:n.*482T=
ENST00000705241.1:c.*5T= ENSP00000516099.1:n.*5T=
ENST00000705242.1:c.810T= ENSP00000516100.1:p.Ser270=
ENST00000705249.1:c.813T= ENSP00000516101.1:p.Ser271=
ENST00000705250.1:c.591T= ENSP00000516102.1:p.Ser197=
ENST00000705251.1:c.*460T= ENSP00000516103.1:n.*460T=
ENST00000705252.1:c.*283T= ENSP00000516104.1:n.*283T=
ENST00000705253.1:c.*283T= ENSP00000516105.1:n.*283T=
ENST00000705254.1:c.420T= ENSP00000516106.1:p.Ser140=
ENST00000705255.1:n.1439T=
ENST00000705256.1:c.870T= ENSP00000516107.1:p.Ser290=
ENST00000366847.9:c.873T= MANE Select ENSP00000355812.3:p.Ser291=
ENST00000349556.4:c.813T= ENSP00000230248.6:p.Ser271=
ENST00000366847.8:c.873T= ENSP00000355812.3:p.Ser291=
ENST00000488525.1:n.59T=
ENST00000496181.1:n.277T=
ENST00000622353.4:c.732T= ENSP00000479115.1:p.Ser244=
NM_001278690.1:c.732T= NP_001265619.1:p.Ser244=
NM_007045.3:c.873T= NP_008976.1:p.Ser291=
NM_194429.2:c.813T= NP_919410.1:p.Ser271=
NM_007045.4:c.873T= MANE Select NP_008976.1:p.Ser291=
NM_194429.3:c.813T= NP_919410.1:p.Ser271=
NM_001278690.2:c.732T= NP_001265619.1:p.Ser244=