Linked Data
ClinVar Variation Id:
322399
ClinVar RCV Id:
RCV000401508
dbSNP Id:
rs886052752
gnomAD v2:
17-26726543-G-A
gnomAD v3:
17-28399527-G-A
gnomAD v4:
17-28399527-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28399527G>A , CM000679.2:g.28399527G>A | GRCh38 |
| NC_000017.10:g.26726543G>A , CM000679.1:g.26726543G>A | GRCh37 |
| NC_000017.9:g.23750670G>A | NCBI36 |
| NG_013306.1:g.11685C>T , LRG_183:g.11685C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585482.6:c.*3241G>A (SARM1) MANE Select | ENSP00000468032.2:n.*3241G>A | |
| ENST00000612814.5:c.*129C>T (SLC46A1) MANE Select | ENSP00000480703.1:n.*129C>T | |
| ENST00000582735.1:c.393C>T (SLC46A1) | ||
| ENST00000585482.5:c.*3241G>A (SARM1) | ENSP00000468032.2:n.*3241G>A | |
| ENST00000612814.4:c.*129C>T (SLC46A1) | ENSP00000480703.1:n.*129C>T | |
| ENST00000618626.1:c.*129C>T (SLC46A1) | ENSP00000483652.1:n.*129C>T | |
| NM_001242366.2:c.*129C>T (SLC46A1) | NP_001229295.1:n.*129C>T | |
| NM_015077.3:c.*3241G>A (SARM1) | NP_055892.2:n.*3241G>A | |
| NM_080669.5:c.*129C>T (SLC46A1) | NP_542400.2:n.*129C>T | |
| XM_005277786.2:c.*20C>T (SLC46A1) | XP_005277843.1:n.*20C>T | |
| XM_005277786.3:c.*20C>T (SLC46A1) | XP_005277843.1:n.*20C>T | |
| XM_017024110.1:c.*129C>T (SLC46A1) | XP_016879599.1:n.*129C>T | |
| NM_015077.4:c.*3241G>A (SARM1) MANE Select | NP_055892.2:n.*3241G>A | |
| NM_080669.6:c.*129C>T (SLC46A1) MANE Select | NP_542400.2:n.*129C>T | |
| NM_001242366.3:c.*129C>T (SLC46A1) | NP_001229295.1:n.*129C>T |