Linked Data
dbSNP Id:
rs782230226
ExAC:
17:26726552 G / T
gnomAD v2:
17-26726552-G-T
gnomAD v3:
17-28399536-G-T
gnomAD v4:
17-28399536-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28399536G>T , CM000679.2:g.28399536G>T | GRCh38 |
| NC_000017.10:g.26726552G>T , CM000679.1:g.26726552G>T | GRCh37 |
| NC_000017.9:g.23750679G>T | NCBI36 |
| NG_013306.1:g.11676C>A , LRG_183:g.11676C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585482.6:c.*3250G>T (SARM1) MANE Select | ENSP00000468032.2:n.*3250G>T | |
| ENST00000612814.5:c.*120C>A (SLC46A1) MANE Select | ENSP00000480703.1:n.*120C>A | |
| ENST00000582735.1:c.384C>A (SLC46A1) | ||
| ENST00000585482.5:c.*3250G>T (SARM1) | ENSP00000468032.2:n.*3250G>T | |
| ENST00000612814.4:c.*120C>A (SLC46A1) | ENSP00000480703.1:n.*120C>A | |
| ENST00000618626.1:c.*120C>A (SLC46A1) | ENSP00000483652.1:n.*120C>A | |
| NM_001242366.2:c.*120C>A (SLC46A1) | NP_001229295.1:n.*120C>A | |
| NM_015077.3:c.*3250G>T (SARM1) | NP_055892.2:n.*3250G>T | |
| NM_080669.5:c.*120C>A (SLC46A1) | NP_542400.2:n.*120C>A | |
| XM_005277786.2:c.*11C>A (SLC46A1) | XP_005277843.1:n.*11C>A | |
| XM_005277786.3:c.*11C>A (SLC46A1) | XP_005277843.1:n.*11C>A | |
| XM_017024110.1:c.*120C>A (SLC46A1) | XP_016879599.1:n.*120C>A | |
| NM_015077.4:c.*3250G>T (SARM1) MANE Select | NP_055892.2:n.*3250G>T | |
| NM_080669.6:c.*120C>A (SLC46A1) MANE Select | NP_542400.2:n.*120C>A | |
| NM_001242366.3:c.*120C>A (SLC46A1) | NP_001229295.1:n.*120C>A |