Linked Data
ClinVar Variation Id:
854
dbSNP Id:
rs80338773
ExAC:
17:26729295 G / A
gnomAD v2:
17-26729295-G-A
gnomAD v3:
17-28402277-G-A
gnomAD v4:
17-28402277-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28402277G>A , CM000679.2:g.28402277G>A | GRCh38 |
| NC_000017.10:g.26729295G>A , CM000679.1:g.26729295G>A | GRCh37 |
| NC_000017.9:g.23753422G>A | NCBI36 |
| NG_013306.1:g.8934C>T , LRG_183:g.8934C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000585482.6:c.*5991G>A (SARM1) MANE Select | ENSP00000468032.2:n.*5991G>A | |
| ENST00000612814.5:c.1126C>T (SLC46A1) MANE Select | ENSP00000480703.1:p.Arg376Trp | |
| ENST00000582735.1:c.206+2339C>T (SLC46A1) | ||
| ENST00000585482.5:c.*5991G>A (SARM1) | ENSP00000468032.2:n.*5991G>A | |
| ENST00000612814.4:c.1126C>T (SLC46A1) | ENSP00000480703.1:p.Arg376Trp | |
| ENST00000618626.1:c.1082-1511C>T (SLC46A1) | ENSP00000483652.1:n.1082-1511C>T | |
| NM_001242366.2:c.1082-1511C>T (SLC46A1) | NP_001229295.1:n.1082-1511C>T | |
| NM_080669.5:c.1126C>T (SLC46A1) | NP_542400.2:p.Arg376Trp | |
| XM_005277786.2:c.1081+2339C>T (SLC46A1) | XP_005277843.1:n.1081+2339C>T | |
| XM_005277786.3:c.1081+2339C>T (SLC46A1) | XP_005277843.1:n.1081+2339C>T | |
| XM_017024110.1:c.904C>T (SLC46A1) | XP_016879599.1:p.Arg302Trp | |
| NM_015077.4:c.*5991G>A (SARM1) MANE Select | NP_055892.2:n.*5991G>A | |
| NM_080669.6:c.1126C>T (SLC46A1) MANE Select | NP_542400.2:p.Arg376Trp | |
| NM_001242366.3:c.1082-1511C>T (SLC46A1) | NP_001229295.1:n.1082-1511C>T |