Canonical Allele Identifier: CA1680192000
Gene: CEP43 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167024864G= , CM000668.2:g.167024864G= GRCh38
NC_000006.11:g.167438352G= , CM000668.1:g.167438352G= GRCh37
NC_000006.10:g.167358342G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000349556.5:c.829G= ENSP00000230248.6:p.Ala277=
ENST00000488525.2:c.*21G= ENSP00000516042.1:n.*21G=
ENST00000609590.2:n.1761G=
ENST00000704900.1:c.466G= ENSP00000516059.1:p.Ala156=
ENST00000704901.1:c.*476G= ENSP00000516060.1:n.*476G=
ENST00000704959.1:n.1154G=
ENST00000704982.1:n.1599G=
ENST00000704985.1:n.1995G=
ENST00000704986.1:n.1995G=
ENST00000705029.1:n.1720G=
ENST00000705059.1:n.1544G=
ENST00000705168.1:c.142G= ENSP00000516071.1:p.Ala48=
ENST00000705169.1:c.142G= ENSP00000516072.1:p.Ala48=
ENST00000705170.1:c.142G= ENSP00000516073.1:p.Ala48=
ENST00000705171.1:n.934G=
ENST00000705173.1:c.*198G= ENSP00000516075.1:n.*198G=
ENST00000705175.1:c.1015G= ENSP00000516077.1:p.Ala339=
ENST00000705176.1:c.1075G= ENSP00000516078.1:p.Ala359=
ENST00000705177.1:c.*473G= ENSP00000516079.1:n.*473G=
ENST00000705178.1:c.412G= ENSP00000516080.1:p.Ala138=
ENST00000705179.1:c.607G= ENSP00000516081.1:p.Ala203=
ENST00000705180.1:c.547G= ENSP00000516082.1:p.Ala183=
ENST00000705235.1:c.889G= ENSP00000516093.1:p.Ala297=
ENST00000705236.1:c.829G= ENSP00000516094.1:p.Ala277=
ENST00000705237.1:c.547G= ENSP00000516095.1:p.Ala183=
ENST00000705238.1:c.748G= ENSP00000516096.1:p.Ala250=
ENST00000705239.1:c.826G= ENSP00000516097.1:p.Ala276=
ENST00000705240.1:c.*498G= ENSP00000516098.1:n.*498G=
ENST00000705241.1:c.*21G= ENSP00000516099.1:n.*21G=
ENST00000705242.1:c.826G= ENSP00000516100.1:p.Ala276=
ENST00000705249.1:c.829G= ENSP00000516101.1:p.Ala277=
ENST00000705250.1:c.607G= ENSP00000516102.1:p.Ala203=
ENST00000705251.1:c.*476G= ENSP00000516103.1:n.*476G=
ENST00000705252.1:c.*299G= ENSP00000516104.1:n.*299G=
ENST00000705253.1:c.*299G= ENSP00000516105.1:n.*299G=
ENST00000705254.1:c.436G= ENSP00000516106.1:p.Ala146=
ENST00000705255.1:n.1455G=
ENST00000705256.1:c.886G= ENSP00000516107.1:p.Ala296=
ENST00000366847.9:c.889G= MANE Select ENSP00000355812.3:p.Ala297=
ENST00000349556.4:c.829G= ENSP00000230248.6:p.Ala277=
ENST00000366847.8:c.889G= ENSP00000355812.3:p.Ala297=
ENST00000488525.1:n.75G=
ENST00000496181.1:n.293G=
ENST00000622353.4:c.748G= ENSP00000479115.1:p.Ala250=
NM_001278690.1:c.748G= NP_001265619.1:p.Ala250=
NM_007045.3:c.889G= NP_008976.1:p.Ala297=
NM_194429.2:c.829G= NP_919410.1:p.Ala277=
NM_007045.4:c.889G= MANE Select NP_008976.1:p.Ala297=
NM_194429.3:c.829G= NP_919410.1:p.Ala277=
NM_001278690.2:c.748G= NP_001265619.1:p.Ala250=