Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141951482G>A , CM000667.2:g.141951482G>A | GRCh38 |
| NC_000005.9:g.141331047G>A , CM000667.1:g.141331047G>A | GRCh37 |
| NC_000005.8:g.141311231G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231484.4:c.2978+11C>T (PCDH12) MANE Select | ENSP00000231484.3:n.2978+11C>T | |
| ENST00000231484.3:c.2978+11C>T (PCDH12) | ENSP00000231484.3:n.2978+11C>T | |
| NM_016580.3:c.2978+11C>T (PCDH12) | NP_057664.1:n.2978+11C>T | |
| XM_024446106.1:c.2978+11C>T (PCDH12) | XP_024301874.1:n.2978+11C>T | |
| XM_024446274.1:c.*91G>A (DELE1) | XP_024302042.1:n.*91G>A | |
| NM_016580.4:c.2978+11C>T (PCDH12) MANE Select | NP_057664.1:n.2978+11C>T |