Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797598A>G , CM000678.2:g.8797598A>G | GRCh38 |
| NC_000016.9:g.8891455A>G , CM000678.1:g.8891455A>G | GRCh37 |
| NC_000016.8:g.8798956A>G | NCBI36 |
| NG_009209.1:g.4786A>G | |
| NG_033146.1:g.5051T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333050.7:c.3+14T>C (TMEM186) MANE Select | ENSP00000331640.6:n.3+14T>C | |
| ENST00000333050.6:c.3+14T>C (TMEM186) | ENSP00000331640.6:n.3+14T>C | |
| ENST00000564869.1:n.31+14T>C (TMEM186) | ||
| ENST00000566983.5:c.-15-4201A>G (PMM2) | ENSP00000457956.1:n.-15-4201A>G | |
| NM_015421.3:c.3+14T>C (TMEM186) | NP_056236.2:n.3+14T>C | |
| NM_015421.4:c.3+14T>C (TMEM186) MANE Select | NP_056236.2:n.3+14T>C |