Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.234373556G>A , CM000663.2:g.234373556G>A | GRCh38 |
| NC_000001.10:g.234509302G>A , CM000663.1:g.234509302G>A | GRCh37 |
| NC_000001.9:g.232575925G>A | NCBI36 |
| NG_034250.1:g.5120G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366615.10:c.90G>A (COA6) MANE Select | ENSP00000355574.5:p.Glu30= | |
| ENST00000366615.8:c.90G>A (COA6) | ENSP00000355574.4:p.Glu30= | |
| ENST00000619305.1:c.-139G>A (COA6) | ENSP00000479686.1:n.-139G>A | |
| NM_001206641.2:c.90G>A (COA6) | NP_001193570.2:p.Glu30= | |
| NR_125961.1:n.38C>T (COA6-AS1) | ||
| NM_001206641.3:c.90G>A (COA6) MANE Select | NP_001193570.2:p.Glu30= |