Canonical Allele Identifier: CA12450928
Gene: CEP43 HGNC NCBI

Linked Data

dbSNP Id: rs2301436

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167024500C>T , CM000668.2:g.167024500C>T GRCh38
NC_000006.11:g.167437988C>T , CM000668.1:g.167437988C>T GRCh37
NC_000006.10:g.167357978C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000366847.9:c.807-282C>T MANE Select ENSP00000355812.3:n.807-282C>T
ENST00000349556.4:c.747-282C>T ENSP00000230248.6:n.747-282C>T
ENST00000366847.8:c.807-282C>T ENSP00000355812.3:n.807-282C>T
ENST00000496181.1:n.211-282C>T
ENST00000622353.4:c.666-282C>T ENSP00000479115.1:n.666-282C>T
NM_001278690.1:c.666-282C>T NP_001265619.1:n.666-282C>T
NM_007045.3:c.807-282C>T NP_008976.1:n.807-282C>T
NM_194429.2:c.747-282C>T NP_919410.1:n.747-282C>T
NM_007045.4:c.807-282C>T MANE Select NP_008976.1:n.807-282C>T
NM_194429.3:c.747-282C>T NP_919410.1:n.747-282C>T
NM_001278690.2:c.666-282C>T NP_001265619.1:n.666-282C>T