Linked Data
ClinVar Variation Id:
297164
ClinVar RCV Id:
RCV000404578
dbSNP Id:
rs748353138
gnomAD v2:
1-33282955-C-T
gnomAD v3:
1-32817354-C-T
gnomAD v4:
1-32817354-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32817354C>T , CM000663.2:g.32817354C>T | GRCh38 |
| NC_000001.10:g.33282955C>T , CM000663.1:g.33282955C>T | GRCh37 |
| NC_000001.9:g.33055542C>T | NCBI36 |
| NG_008408.1:g.5679G>A , LRG_273:g.5679G>A | |
| NG_031988.1:g.4913C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000675785.2:c.-110G>A (YARS1) | ENSP00000502019.1:n.-110G>A | |
| ENST00000373477.9:c.-110G>A (YARS1) MANE Select | ENSP00000362576.4:n.-110G>A | |
| ENST00000674629.1:c.-110G>A (YARS1) | ENSP00000502470.1:n.-110G>A | |
| ENST00000674654.1:c.-110G>A (YARS1) | ENSP00000501729.1:n.-110G>A | |
| ENST00000675785.1:c.-110G>A (YARS1) | ENSP00000502019.1:n.-110G>A | |
| ENST00000676297.1:c.-110G>A (YARS1) | ENSP00000501596.1:n.-110G>A | |
| ENST00000373477.8:c.-110G>A (YARS1) | ENSP00000362576.4:n.-110G>A | |
| ENST00000530710.5:c.-120+372C>T (S100PBP) | ENSP00000434933.1:n.-120+372C>T | |
| NM_003680.3:c.-110G>A , LRG_273t1:c.-110G>A (YARS1) | NP_003671.1:n.-110G>A | |
| XM_011541962.1:c.-120+372C>T (S100PBP) | XP_011540264.1:n.-120+372C>T | |
| XM_011542347.1:c.-417G>A (YARS1) | XP_011540649.1:n.-417G>A | |
| XM_011542348.1:c.-464G>A (YARS1) | XP_011540650.1:n.-464G>A | |
| XM_011541962.2:c.-120+372C>T (S100PBP) | XP_011540264.1:n.-120+372C>T | |
| XM_011542347.2:c.-417G>A (YARS1) | XP_011540649.1:n.-417G>A | |
| XM_017002651.2:c.-787G>A (YARS1) | XP_016858140.1:n.-787G>A | |
| NM_003680.4:c.-110G>A (YARS1) MANE Select | NP_003671.1:n.-110G>A |