Linked Data
dbSNP Id:
rs774353978
ExAC:
15:101454977 GA / G
gnomAD v2:
15-101454977-GA-G
gnomAD v4:
15-100914772-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100914774del , CM000677.2:g.100914774del | GRCh38 |
| NC_000015.9:g.101454979del , CM000677.1:g.101454979del | GRCh37 |
| NC_000015.8:g.99272502del | NCBI36 |
| NG_012254.1:g.39971del | |
| NG_052791.1:g.758del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329841.10:c.*1del (ALDH1A3) MANE Select | ENSP00000332256.5:n.*1del | |
| ENST00000329841.9:c.*1del (ALDH1A3) | ENSP00000332256.5:n.*1del | |
| ENST00000346623.6:c.*1del (ALDH1A3) | ENSP00000343294.6:n.*1del | |
| NM_000693.3:c.*1del (ALDH1A3) | NP_000684.2:n.*1del | |
| NM_001293815.1:c.*1del (ALDH1A3) | NP_001280744.1:n.*1del | |
| NR_135827.1:n.480+4031del (ALDH1A3-AS1) | ||
| NR_135828.1:n.1688del (ALDH1A3-AS1) | ||
| NR_135831.1:n.2604del (ALDH1A3-AS1) | ||
| NM_000693.4:c.*1del (ALDH1A3) MANE Select | NP_000684.2:n.*1del | |
| NM_001293815.2:c.*1del (ALDH1A3) | NP_001280744.1:n.*1del |