Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61801834C>G , CM000673.2:g.61801834C>G | GRCh38 |
| NC_000011.9:g.61569306C>G , CM000673.1:g.61569306C>G | GRCh37 |
| NC_000011.8:g.61325882C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350997.12:c.*577G>C (FADS1) MANE Select | ENSP00000322229.9:n.*577G>C | |
| ENST00000350997.11:c.*577G>C (FADS1) | ENSP00000322229.9:n.*577G>C | |
| ENST00000574708.5:c.-55+8806C>G (FADS2) | ENSP00000458917.1:n.-55+8806C>G | |
| NM_013402.4:c.*577G>C (FADS1) | NP_037534.3:n.*577G>C | |
| XM_011545022.1:c.*577G>C (FADS1) | XP_011543324.1:n.*577G>C | |
| NM_013402.6:c.*577G>C (FADS1) | NP_037534.5:n.*577G>C | |
| XM_011545022.2:c.*577G>C (FADS1) | XP_011543324.1:n.*577G>C | |
| NM_013402.7:c.*577G>C (FADS1) MANE Select | NP_037534.5:n.*577G>C |