Linked Data
ClinVar Variation Id:
242459
dbSNP Id:
rs770127110
ExAC:
3:128628895 G / A
gnomAD v2:
3-128628895-G-A
gnomAD v3:
3-128910052-G-A
gnomAD v4:
3-128910052-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128910052G>A , CM000665.2:g.128910052G>A | GRCh38 |
| NC_000003.11:g.128628895G>A , CM000665.1:g.128628895G>A | GRCh37 |
| NC_000003.10:g.130111585G>A | NCBI36 |
| NG_017064.1:g.35563G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645291.3:c.*247C>T (CFAP92) MANE Select | ENSP00000496592.2:n.*247C>T | |
| ENST00000308982.12:c.1595G>A (ACAD9) MANE Select | ENSP00000312618.7:p.Arg532Gln | |
| ENST00000511325.2:n.2272G>A (ACAD9) | ||
| ENST00000645291.2:c.*247C>T (CFAP92) | ENSP00000496592.2:n.*247C>T | |
| ENST00000679399.1:c.*1766G>A (ACAD9) | ENSP00000505434.1:n.*1766G>A | |
| ENST00000679431.1:c.*1471G>A (ACAD9) | ENSP00000506440.1:n.*1471G>A | |
| ENST00000679613.1:c.1595G>A (ACAD9) | ENSP00000504971.1:p.Arg532Gln | |
| ENST00000679715.1:c.1226G>A (ACAD9) | ENSP00000506228.1:p.Arg409Gln | |
| ENST00000679824.1:c.*2901G>A (ACAD9) | ENSP00000505516.1:n.*2901G>A | |
| ENST00000679990.1:n.2429G>A (ACAD9) | ||
| ENST00000680636.1:c.1689G>A (ACAD9) | ENSP00000504886.1:p.Ala563= | |
| ENST00000680638.1:n.1947G>A (ACAD9) | ||
| ENST00000680744.1:c.*948G>A (ACAD9) | ENSP00000505243.1:n.*948G>A | |
| ENST00000680764.1:c.*2999G>A (ACAD9) | ENSP00000505126.1:n.*2999G>A | |
| ENST00000681319.1:n.2381G>A (ACAD9) | ||
| ENST00000681367.1:c.1595G>A (ACAD9) | ENSP00000505309.1:p.Arg532Gln | |
| ENST00000681552.1:c.1150-2455G>A (ACAD9) | ENSP00000505699.1:n.1150-2455G>A | |
| ENST00000681583.1:c.1595G>A (ACAD9) | ENSP00000506340.1:p.Arg532Gln | |
| ENST00000681585.1:c.*214G>A (ACAD9) | ENSP00000506316.1:n.*214G>A | |
| ENST00000681784.1:n.2272G>A (ACAD9) | ||
| ENST00000681886.1:c.*1387G>A (ACAD9) | ENSP00000506500.1:n.*1387G>A | |
| ENST00000308982.11:c.1595G>A (ACAD9) | ENSP00000312618.7:p.Arg532Gln | |
| ENST00000505867.5:c.*1395G>A (ACAD9) | ENSP00000425346.1:n.*1395G>A | |
| ENST00000508239.1:c.*247C>T | ENSP00000424951.1:n.*247C>T | |
| ENST00000508971.1:c.884G>A (ACAD9) | ENSP00000422683.1:p.Arg295Gln | |
| ENST00000511227.5:c.*1489G>A (ACAD9) | ENSP00000425226.1:n.*1489G>A | |
| ENST00000511325.1:n.1175G>A (ACAD9) | ||
| ENST00000511438.5:c.*247C>T (CFAP92) | ENSP00000426217.1:n.*247C>T | |
| ENST00000511526.5:n.1128G>A (ACAD9) | ||
| ENST00000620948.3:c.25-1G>A (ACAD9) | ENSP00000478191.1:n.25-1G>A | |
| NM_014049.4:c.1595G>A (ACAD9) | NP_054768.2:p.Arg532Gln | |
| NR_033426.1:n.1973G>A (ACAD9) | ||
| XM_011512742.1:c.1226G>A (ACAD9) | XP_011511044.1:p.Arg409Gln | |
| NM_001348520.1:c.*247C>T (CFAP92) | NP_001335449.1:n.*247C>T | |
| NM_001348521.1:c.*247C>T (CFAP92) | NP_001335450.1:n.*247C>T | |
| XM_024453484.1:c.1226G>A (ACAD9) | XP_024309252.1:p.Arg409Gln | |
| XM_024453485.1:c.1226G>A (ACAD9) | XP_024309253.1:p.Arg409Gln | |
| XR_427367.3:n.1671G>A (ACAD9) | ||
| NM_014049.5:c.1595G>A (ACAD9) MANE Select | NP_054768.2:p.Arg532Gln | |
| NM_001348520.2:c.*247C>T (CFAP92) | NP_001335449.1:n.*247C>T | |
| NM_001348521.2:c.*247C>T (CFAP92) | NP_001335450.1:n.*247C>T | |
| NM_001394090.1:c.*247C>T (CFAP92) MANE Select | NP_001381019.1:n.*247C>T | |
| NR_033426.2:n.1843G>A (ACAD9) |