gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70770025 (EAS)
Genomes Max Group AF
0.7074853 (EAS)
Exomes Max Group AF
0.49080845 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28398728T>C , CM000679.2:g.28398728T>C | GRCh38 |
| NC_000017.10:g.26725744T>C , CM000679.1:g.26725744T>C | GRCh37 |
| NC_000017.9:g.23749871T>C | NCBI36 |
| NG_013306.1:g.12484A>G , LRG_183:g.12484A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585482.6:c.*2442T>C (SARM1) MANE Select | ENSP00000468032.2:n.*2442T>C | |
| ENST00000612814.5:c.*928A>G (SLC46A1) MANE Select | ENSP00000480703.1:n.*928A>G | |
| ENST00000585482.5:c.*2442T>C (SARM1) | ENSP00000468032.2:n.*2442T>C | |
| ENST00000612814.4:c.*928A>G (SLC46A1) | ENSP00000480703.1:n.*928A>G | |
| ENST00000618626.1:c.*928A>G (SLC46A1) | ENSP00000483652.1:n.*928A>G | |
| NM_001242366.2:c.*928A>G (SLC46A1) | NP_001229295.1:n.*928A>G | |
| NM_015077.3:c.*2442T>C (SARM1) | NP_055892.2:n.*2442T>C | |
| NM_080669.5:c.*928A>G (SLC46A1) | NP_542400.2:n.*928A>G | |
| XM_005277786.2:c.*819A>G (SLC46A1) | XP_005277843.1:n.*819A>G | |
| XM_005277786.3:c.*819A>G (SLC46A1) | XP_005277843.1:n.*819A>G | |
| XM_017024110.1:c.*928A>G (SLC46A1) | XP_016879599.1:n.*928A>G | |
| NM_015077.4:c.*2442T>C (SARM1) MANE Select | NP_055892.2:n.*2442T>C | |
| NM_080669.6:c.*928A>G (SLC46A1) MANE Select | NP_542400.2:n.*928A>G | |
| NM_001242366.3:c.*928A>G (SLC46A1) | NP_001229295.1:n.*928A>G |