Linked Data
ClinVar Variation Id:
314178
dbSNP Id:
rs2072293
ExAC:
14:74537885 T / G
gnomAD v2:
14-74537885-T-G
gnomAD v3:
14-74071182-T-G
gnomAD v4:
14-74071182-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74071182T>G , CM000676.2:g.74071182T>G | GRCh38 |
| NC_000014.8:g.74537885T>G , CM000676.1:g.74537885T>G | GRCh37 |
| NC_000014.7:g.73607638T>G | NCBI36 |
| NG_012257.2:g.18312A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553458.6:c.730+13A>C (ALDH6A1) MANE Select | ENSP00000450436.1:n.730+13A>C | |
| ENST00000350259.8:c.691+13A>C (ALDH6A1) | ENSP00000342564.4:n.691+13A>C | |
| ENST00000492026.4:n.1380-7014T>G (BBOF1) | ||
| ENST00000553458.5:c.730+13A>C (ALDH6A1) | ENSP00000450436.1:n.730+13A>C | |
| ENST00000554231.5:n.841A>C (ALDH6A1) | ||
| ENST00000554501.5:n.948+13A>C (ALDH6A1) | ||
| NM_001278593.1:c.691+13A>C (ALDH6A1) | NP_001265522.1:n.691+13A>C | |
| NM_001278594.1:c.268+13A>C (ALDH6A1) | NP_001265523.1:n.268+13A>C | |
| NM_005589.3:c.730+13A>C (ALDH6A1) | NP_005580.1:n.730+13A>C | |
| XM_011537172.1:c.1687-7014T>G (BBOF1) | XP_011535474.1:n.1687-7014T>G | |
| XM_011537173.1:c.1694-7014T>G (BBOF1) | XP_011535475.1:n.1694-7014T>G | |
| XM_017021331.2:c.268+13A>C (ALDH6A1) | XP_016876820.1:n.268+13A>C | |
| XM_017021659.1:c.1579-7014T>G (BBOF1) | XP_016877148.1:n.1579-7014T>G | |
| NM_001278593.2:c.691+13A>C (ALDH6A1) | NP_001265522.1:n.691+13A>C | |
| NM_001278594.2:c.268+13A>C (ALDH6A1) | NP_001265523.1:n.268+13A>C | |
| NM_005589.4:c.730+13A>C (ALDH6A1) MANE Select | NP_005580.1:n.730+13A>C |