Linked Data
ClinVar Variation Id:
208071
ClinVar RCV Id:
RCV000190333
dbSNP Id:
rs796065046
gnomAD v4:
14-74072539-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74072539G>A , CM000676.2:g.74072539G>A | GRCh38 |
| NC_000014.8:g.74539242G>A , CM000676.1:g.74539242G>A | GRCh37 |
| NC_000014.7:g.73608995G>A | NCBI36 |
| NG_012257.2:g.16955C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553458.6:c.184C>T (ALDH6A1) MANE Select | ENSP00000450436.1:p.Pro62Ser | |
| ENST00000350259.8:c.184C>T (ALDH6A1) | ENSP00000342564.4:p.Pro62Ser | |
| ENST00000492026.4:n.1380-5657G>A (BBOF1) | ||
| ENST00000553458.5:c.184C>T (ALDH6A1) | ENSP00000450436.1:p.Pro62Ser | |
| ENST00000553814.5:n.138-175C>T (ALDH6A1) | ||
| ENST00000554231.5:n.282C>T (ALDH6A1) | ||
| ENST00000554501.5:n.239C>T (ALDH6A1) | ||
| ENST00000556852.1:n.237C>T (ALDH6A1) | ||
| NM_001278593.1:c.184C>T (ALDH6A1) | NP_001265522.1:p.Pro62Ser | |
| NM_001278594.1:c.-442C>T (ALDH6A1) | NP_001265523.1:n.-442C>T | |
| NM_005589.3:c.184C>T (ALDH6A1) | NP_005580.1:p.Pro62Ser | |
| XM_011537172.1:c.1687-5657G>A (BBOF1) | XP_011535474.1:n.1687-5657G>A | |
| XM_011537173.1:c.1694-5657G>A (BBOF1) | XP_011535475.1:n.1694-5657G>A | |
| XM_017021331.2:c.-351C>T (ALDH6A1) | XP_016876820.1:n.-351C>T | |
| XM_017021659.1:c.1579-5657G>A (BBOF1) | XP_016877148.1:n.1579-5657G>A | |
| NM_001278593.2:c.184C>T (ALDH6A1) | NP_001265522.1:p.Pro62Ser | |
| NM_001278594.2:c.-442C>T (ALDH6A1) | NP_001265523.1:n.-442C>T | |
| NM_005589.4:c.184C>T (ALDH6A1) MANE Select | NP_005580.1:p.Pro62Ser |