UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128912597G= , CM000665.2:g.128912597G= | GRCh38 |
| NC_000003.11:g.128631440G= , CM000665.1:g.128631440G= | GRCh37 |
| NC_000003.10:g.130114130G= | NCBI36 |
| NG_017064.1:g.38108G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645291.3:c.3281-2264C= (CFAP92) MANE Select | ENSP00000496592.2:n.3281-2264C= | |
| ENST00000308982.12:c.1856G= (ACAD9) MANE Select | ENSP00000312618.7:p.Arg619= | |
| ENST00000511325.2:n.2533G= (ACAD9) | ||
| ENST00000637488.2:c.861-2264C= (CFAP92) | ||
| ENST00000645291.2:c.3281-2264C= (CFAP92) | ENSP00000496592.2:n.3281-2264C= | |
| ENST00000679399.1:c.*2027G= (ACAD9) | ENSP00000505434.1:n.*2027G= | |
| ENST00000679431.1:c.*1732G= (ACAD9) | ENSP00000506440.1:n.*1732G= | |
| ENST00000679613.1:c.*223G= (ACAD9) | ENSP00000504971.1:n.*223G= | |
| ENST00000679715.1:c.1487G= (ACAD9) | ENSP00000506228.1:p.Arg496= | |
| ENST00000679824.1:c.*3162G= (ACAD9) | ENSP00000505516.1:n.*3162G= | |
| ENST00000679990.1:n.2690G= (ACAD9) | ||
| ENST00000680636.1:c.*69G= (ACAD9) | ENSP00000504886.1:n.*69G= | |
| ENST00000680638.1:n.3901G= (ACAD9) | ||
| ENST00000680744.1:c.*1209G= (ACAD9) | ENSP00000505243.1:n.*1209G= | |
| ENST00000680764.1:c.*3260G= (ACAD9) | ENSP00000505126.1:n.*3260G= | |
| ENST00000681319.1:n.2642G= (ACAD9) | ||
| ENST00000681367.1:c.*73G= (ACAD9) | ENSP00000505309.1:n.*73G= | |
| ENST00000681552.1:c.*73G= (ACAD9) | ENSP00000505699.1:n.*73G= | |
| ENST00000681583.1:c.1856G= (ACAD9) | ENSP00000506340.1:p.Arg619= | |
| ENST00000681585.1:c.*475G= (ACAD9) | ENSP00000506316.1:n.*475G= | |
| ENST00000681784.1:n.3124G= (ACAD9) | ||
| ENST00000681886.1:c.*1648G= (ACAD9) | ENSP00000506500.1:n.*1648G= | |
| ENST00000308982.11:c.1856G= (ACAD9) | ENSP00000312618.7:p.Arg619= | |
| ENST00000505867.5:c.*1656G= (ACAD9) | ENSP00000425346.1:n.*1656G= | |
| ENST00000508239.1:c.1685-2264C= | ENSP00000424951.1:n.1685-2264C= | |
| ENST00000508971.1:c.1145G= (ACAD9) | ENSP00000422683.1:p.Arg382= | |
| ENST00000511227.5:c.*1750G= (ACAD9) | ENSP00000425226.1:n.*1750G= | |
| ENST00000511325.1:n.1436G= (ACAD9) | ||
| ENST00000511438.5:c.1169-2264C= (CFAP92) | ENSP00000426217.1:n.1169-2264C= | |
| ENST00000511526.5:n.1389G= (ACAD9) | ||
| ENST00000620948.3:c.283G= (ACAD9) | ENSP00000478191.1:p.Gly95= | |
| NM_014049.4:c.1856G= (ACAD9) | NP_054768.2:p.Arg619= | |
| NR_033426.1:n.2234G= (ACAD9) | ||
| XM_011512742.1:c.1487G= (ACAD9) | XP_011511044.1:p.Arg496= | |
| XM_011513047.1:c.3398-2264C= (CFAP92) | XP_011511349.1:n.3398-2264C= | |
| XM_011513048.1:c.3267-2264C= (CFAP92) | XP_011511350.1:n.3267-2264C= | |
| XM_011513049.1:c.3267-2268C= (CFAP92) | XP_011511351.1:n.3267-2268C= | |
| XM_011513050.1:c.3323-2264C= (CFAP92) | XP_011511352.1:n.3323-2264C= | |
| NM_001348520.1:c.2408-2264C= (CFAP92) | NP_001335449.1:n.2408-2264C= | |
| NM_001348521.1:c.2312-2264C= (CFAP92) | NP_001335450.1:n.2312-2264C= | |
| XM_011513050.2:c.3377-2264C= (CFAP92) | XP_011511352.2:n.3377-2264C= | |
| XM_017006939.2:c.*2358C= (CFAP92) | XP_016862428.1:n.*2358C= | |
| XM_017006940.2:c.*2358C= (CFAP92) | XP_016862429.1:n.*2358C= | |
| XM_017006941.2:c.*2358C= (CFAP92) | XP_016862430.1:n.*2358C= | |
| XM_017006942.2:c.*2358C= (CFAP92) | XP_016862431.1:n.*2358C= | |
| XM_017006944.2:c.*2358C= (CFAP92) | XP_016862433.1:n.*2358C= | |
| XM_017006945.1:c.3281-2264C= (CFAP92) | XP_016862434.1:n.3281-2264C= | |
| XM_017006946.2:c.*2358C= (CFAP92) | XP_016862435.1:n.*2358C= | |
| XM_017006947.2:c.5493C= (CFAP92) | XP_016862436.1:n.5493C= | |
| XM_017006948.2:c.*2358C= (CFAP92) | XP_016862437.1:n.*2358C= | |
| XM_017006950.2:c.*2358C= (CFAP92) | XP_016862439.1:n.*2358C= | |
| XM_017006951.2:c.*2358C= (CFAP92) | XP_016862440.1:n.*2358C= | |
| XM_017006952.2:c.*2358C= (CFAP92) | XP_016862441.1:n.*2358C= | |
| XM_017006953.2:c.*2358C= (CFAP92) | XP_016862442.1:n.*2358C= | |
| XM_017006954.1:c.1919-2264C= (CFAP92) | XP_016862443.1:n.1919-2264C= | |
| XM_024453484.1:c.1487G= (ACAD9) | XP_024309252.1:p.Arg496= | |
| XM_024453485.1:c.1487G= (ACAD9) | XP_024309253.1:p.Arg496= | |
| XM_024453688.1:c.*2358C= (CFAP92) | XP_024309456.1:n.*2358C= | |
| XM_024453689.1:c.*2358C= (CFAP92) | XP_024309457.1:n.*2358C= | |
| XR_427367.3:n.1932G= (ACAD9) | ||
| NM_014049.5:c.1856G= (ACAD9) MANE Select | NP_054768.2:p.Arg619= | |
| NM_001348520.2:c.2408-2264C= (CFAP92) | NP_001335449.1:n.2408-2264C= | |
| NM_001348521.2:c.2312-2264C= (CFAP92) | NP_001335450.1:n.2312-2264C= | |
| NM_001394090.1:c.3281-2264C= (CFAP92) MANE Select | NP_001381019.1:n.3281-2264C= | |
| NR_033426.2:n.2104G= (ACAD9) |