Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20644549G>A , CM000663.2:g.20644549G>A | GRCh38 |
| NC_000001.10:g.20971042G>A , CM000663.1:g.20971042G>A | GRCh37 |
| NC_000001.9:g.20843629G>A | NCBI36 |
| NG_008164.1:g.16095G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032409.3:c.836G>A (PINK1) MANE Select | NP_115785.1:p.Arg279His |
| ENST00000321556.5:c.836G>A (PINK1) MANE Select | ENSP00000364204.3:p.Arg279His |
| NM_032409.2:c.836G>A (PINK1) | NP_115785.1:p.Arg279His |
| NR_046507.1:n.3981+1036C>T (PINK1-AS) | |
| ENST00000321556.4:c.836G>A (PINK1) | ENSP00000364204.3:p.Arg279His |
| ENST00000492302.1:n.1924G>A (PINK1) |