Linked Data
gnomAD v4:
16-8797591-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797591G>T , CM000678.2:g.8797591G>T | GRCh38 |
| NC_000016.9:g.8891448G>T , CM000678.1:g.8891448G>T | GRCh37 |
| NC_000016.8:g.8798949G>T | NCBI36 |
| NG_009209.1:g.4779G>T | |
| NG_033146.1:g.5058C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333050.7:c.3+21C>A (TMEM186) MANE Select | ENSP00000331640.6:n.3+21C>A | |
| ENST00000333050.6:c.3+21C>A (TMEM186) | ENSP00000331640.6:n.3+21C>A | |
| ENST00000564869.1:n.31+21C>A (TMEM186) | ||
| ENST00000566983.5:c.-15-4208G>T (PMM2) | ENSP00000457956.1:n.-15-4208G>T | |
| NM_015421.3:c.3+21C>A (TMEM186) | NP_056236.2:n.3+21C>A | |
| NM_015421.4:c.3+21C>A (TMEM186) MANE Select | NP_056236.2:n.3+21C>A |