Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141951389C>T , CM000667.2:g.141951389C>T | GRCh38 |
| NC_000005.9:g.141330954C>T , CM000667.1:g.141330954C>T | GRCh37 |
| NC_000005.8:g.141311138C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231484.4:c.2978+104G>A (PCDH12) MANE Select | ENSP00000231484.3:n.2978+104G>A | |
| ENST00000231484.3:c.2978+104G>A (PCDH12) | ENSP00000231484.3:n.2978+104G>A | |
| NM_016580.3:c.2978+104G>A (PCDH12) | NP_057664.1:n.2978+104G>A | |
| XM_005268550.3:c.*1301C>T (DELE1) | XP_005268607.1:n.*1301C>T | |
| XM_024446106.1:c.2978+104G>A (PCDH12) | XP_024301874.1:n.2978+104G>A | |
| XM_024446274.1:c.*35-37C>T (DELE1) | XP_024302042.1:n.*35-37C>T | |
| NM_016580.4:c.2978+104G>A (PCDH12) MANE Select | NP_057664.1:n.2978+104G>A |