Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797606C>T , CM000678.2:g.8797606C>T | GRCh38 |
| NC_000016.9:g.8891463C>T , CM000678.1:g.8891463C>T | GRCh37 |
| NC_000016.8:g.8798964C>T | NCBI36 |
| NG_009209.1:g.4794C>T | |
| NG_033146.1:g.5043G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333050.7:c.3+6G>A (TMEM186) MANE Select | ENSP00000331640.6:n.3+6G>A | |
| ENST00000333050.6:c.3+6G>A (TMEM186) | ENSP00000331640.6:n.3+6G>A | |
| ENST00000564869.1:n.31+6G>A (TMEM186) | ||
| ENST00000566983.5:c.-15-4193C>T (PMM2) | ENSP00000457956.1:n.-15-4193C>T | |
| NM_015421.3:c.3+6G>A (TMEM186) | NP_056236.2:n.3+6G>A | |
| NM_015421.4:c.3+6G>A (TMEM186) MANE Select | NP_056236.2:n.3+6G>A |