Linked Data
gnomAD v4:
16-8797593-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797593T>A , CM000678.2:g.8797593T>A | GRCh38 |
| NC_000016.9:g.8891450T>A , CM000678.1:g.8891450T>A | GRCh37 |
| NC_000016.8:g.8798951T>A | NCBI36 |
| NG_009209.1:g.4781T>A | |
| NG_033146.1:g.5056A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333050.7:c.3+19A>T (TMEM186) MANE Select | ENSP00000331640.6:n.3+19A>T | |
| ENST00000333050.6:c.3+19A>T (TMEM186) | ENSP00000331640.6:n.3+19A>T | |
| ENST00000564869.1:n.31+19A>T (TMEM186) | ||
| ENST00000566983.5:c.-15-4206T>A (PMM2) | ENSP00000457956.1:n.-15-4206T>A | |
| NM_015421.3:c.3+19A>T (TMEM186) | NP_056236.2:n.3+19A>T | |
| NM_015421.4:c.3+19A>T (TMEM186) MANE Select | NP_056236.2:n.3+19A>T |