Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.134985856G= , CM000667.2:g.134985856G= | GRCh38 |
| NC_000005.9:g.134321546G= , CM000667.1:g.134321546G= | GRCh37 |
| NC_000005.8:g.134349445G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_178019.3:c.253-10417G= (CATSPER3) MANE Select | NP_821138.1:n.253-10417G= |
| ENST00000282611.8:c.253-10417G= (CATSPER3) MANE Select | ENSP00000282611.6:n.253-10417G= |
| NM_178019.2:c.253-10417G= (CATSPER3) | NP_821138.1:n.253-10417G= |
| ENST00000282611.7:c.253-10417G= (CATSPER3) | ENSP00000282611.6:n.253-10417G= |
| ENST00000504352.1:c.719-10417G= (PCBD2) | ENSP00000426161.1:n.719-10417G= |
| ENST00000511235.1:n.338-9785G= (CATSPER3) |