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.
Linked Data
gnomAD v4:
20-45424136-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45424136T>C , CM000682.2:g.45424136T>C | GRCh38 |
| NC_000020.10:g.44052776T>C , CM000682.1:g.44052776T>C | GRCh37 |
| NC_000020.9:g.43486190T>C | NCBI36 |
| NG_047154.1:g.13070T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000424705.3:c.1235-80T>C | ENSP00000491856.2:n.1235-80T>C | |
| ENST00000638691.2:c.1235-80T>C | ENSP00000492094.2:n.1235-80T>C | |
| ENST00000639292.2:c.1316-80T>C | ENSP00000491678.2:n.1316-80T>C | |
| ENST00000640549.2:c.1235-80T>C | ENSP00000492043.2:n.1235-80T>C | |
| ENST00000687237.1:n.545T>C | ||
| ENST00000689203.1:c.1235-80T>C | ENSP00000508682.1:n.1235-80T>C | |
| ENST00000690879.1:n.631T>C | ||
| ENST00000692236.1:c.1235-80T>C | ENSP00000509421.1:n.1235-80T>C | |
| ENST00000279035.14:c.929-80T>C | ENSP00000279035.8:n.929-80T>C | |
| ENST00000279036.12:c.1235-80T>C MANE Select | ENSP00000279036.6:n.1235-80T>C | |
| ENST00000432270.2:c.728-80T>C | ENSP00000408354.2:n.728-80T>C | |
| ENST00000543458.7:c.1067-80T>C | ENSP00000441577.1:n.1067-80T>C | |
| ENST00000545755.3:c.653-80T>C | ENSP00000443963.3:n.653-80T>C | |
| ENST00000638241.1:n.1033T>C | ||
| ENST00000638246.1:c.*735-80T>C | ENSP00000492883.1:n.*735-80T>C | |
| ENST00000638277.1:c.169-80T>C | ||
| ENST00000638383.1:c.*584-80T>C | ENSP00000492295.1:n.*584-80T>C | |
| ENST00000638387.1:c.*279-80T>C | ENSP00000492873.1:n.*279-80T>C | |
| ENST00000638415.1:c.772-80T>C | ||
| ENST00000638445.1:c.*619-80T>C | ENSP00000491297.1:n.*619-80T>C | |
| ENST00000638537.1:n.1024-80T>C | ||
| ENST00000638594.1:c.1235-80T>C | ENSP00000491697.1:n.1235-80T>C | |
| ENST00000638612.1:c.1235-80T>C | ENSP00000491458.1:n.1235-80T>C | |
| ENST00000638671.1:c.*619-80T>C | ENSP00000492875.1:n.*619-80T>C | |
| ENST00000638689.1:n.3442-80T>C | ||
| ENST00000638710.1:c.1441-80T>C | ENSP00000491406.1:n.1441-80T>C | |
| ENST00000638714.1:c.*619-80T>C | ENSP00000491194.1:n.*619-80T>C | |
| ENST00000638745.1:c.*619-80T>C | ENSP00000491744.1:n.*619-80T>C | |
| ENST00000638927.1:c.377-80T>C | ENSP00000492335.1:n.377-80T>C | |
| ENST00000638938.1:c.*691-80T>C | ENSP00000491171.1:n.*691-80T>C | |
| ENST00000638962.1:n.1195-80T>C | ||
| ENST00000638978.1:c.1185-80T>C | ENSP00000492743.1:n.1185-80T>C | |
| ENST00000639250.1:n.2485-80T>C | ||
| ENST00000639292.1:c.1095-80T>C | ||
| ENST00000639382.1:c.1094-80T>C | ENSP00000491534.1:n.1094-80T>C | |
| ENST00000639417.1:c.*279-80T>C | ENSP00000491058.1:n.*279-80T>C | |
| ENST00000639499.1:c.1235-80T>C | ENSP00000491170.1:n.1235-80T>C | |
| ENST00000639664.1:n.962-80T>C | ||
| ENST00000639783.1:c.*537-80T>C | ENSP00000491772.1:n.*537-80T>C | |
| ENST00000639872.1:n.804-80T>C | ||
| ENST00000639932.1:c.*537-80T>C | ENSP00000491600.1:n.*537-80T>C | |
| ENST00000639984.1:c.*537-80T>C | ENSP00000492727.1:n.*537-80T>C | |
| ENST00000640107.1:c.*495-80T>C | ENSP00000491118.1:n.*495-80T>C | |
| ENST00000640108.1:c.*924-80T>C | ENSP00000492007.1:n.*924-80T>C | |
| ENST00000640175.1:c.*537-80T>C | ENSP00000492418.1:n.*537-80T>C | |
| ENST00000640194.1:c.*554-80T>C | ENSP00000492279.1:n.*554-80T>C | |
| ENST00000640210.1:c.824-80T>C | ENSP00000491164.1:n.824-80T>C | |
| ENST00000640253.1:n.369T>C | ||
| ENST00000640272.1:c.*619-80T>C | ENSP00000492270.1:n.*619-80T>C | |
| ENST00000640324.1:c.1241-80T>C | ENSP00000491074.1:n.1241-80T>C | |
| ENST00000640364.1:n.1958-80T>C | ||
| ENST00000640542.1:c.1034-80T>C | ENSP00000492174.1:n.1034-80T>C | |
| ENST00000640549.1:c.725-80T>C | ENSP00000492043.1:n.725-80T>C | |
| ENST00000640585.1:c.*892-80T>C | ENSP00000491308.1:n.*892-80T>C | |
| ENST00000640638.1:n.323T>C | ||
| ENST00000640666.1:c.1235-80T>C | ENSP00000491072.1:n.1235-80T>C | |
| ENST00000640692.1:c.*151-80T>C | ENSP00000492370.1:n.*151-80T>C | |
| ENST00000640940.1:n.897-80T>C | ||
| ENST00000640986.1:c.*352-80T>C | ENSP00000491886.1:n.*352-80T>C | |
| ENST00000640996.1:c.*912-80T>C | ENSP00000492464.1:n.*912-80T>C | |
| ENST00000279035.13:c.929-80T>C | ENSP00000279035.8:n.929-80T>C | |
| ENST00000279036.10:c.1235-80T>C | ENSP00000279036.6:n.1235-80T>C | |
| ENST00000372689.9:c.1034-80T>C | ENSP00000361774.4:n.1034-80T>C | |
| ENST00000455050.2:c.*766-80T>C | ENSP00000407574.2:n.*766-80T>C | |
| ENST00000543458.6:c.1067-80T>C | ENSP00000441577.1:n.1067-80T>C | |
| ENST00000545755.2:c.264-80T>C | ||
| NM_001184728.2:c.1067-80T>C | NP_001171657.1:n.1067-80T>C | |
| NM_001184729.2:c.1034-80T>C | NP_001171658.1:n.1034-80T>C | |
| NM_001184730.2:c.929-80T>C | NP_001171659.1:n.929-80T>C | |
| NM_015937.5:c.1235-80T>C | NP_057021.2:n.1235-80T>C | |
| NR_047691.1:n.1285-80T>C | ||
| NR_047692.1:n.1228-80T>C | ||
| NR_047693.1:n.1224-80T>C | ||
| NR_047694.1:n.1147-80T>C | ||
| NR_047695.1:n.918-80T>C | ||
| XM_005260430.2:c.728-80T>C | XP_005260487.1:n.728-80T>C | |
| XM_005260432.1:c.449-80T>C | XP_005260489.1:n.449-80T>C | |
| XM_005260432.3:c.449-80T>C | XP_005260489.1:n.449-80T>C | |
| XR_001754286.2:n.1271-80T>C | ||
| XR_001754287.2:n.1070-80T>C | ||
| NM_015937.6:c.1235-80T>C MANE Select | NP_057021.2:n.1235-80T>C | |
| NM_001184728.3:c.1067-80T>C | NP_001171657.1:n.1067-80T>C | |
| NM_001184729.3:c.1034-80T>C | NP_001171658.1:n.1034-80T>C | |
| NM_001184730.3:c.929-80T>C | NP_001171659.1:n.929-80T>C | |
| NR_047691.2:n.1211-80T>C | ||
| NR_047692.2:n.1154-80T>C | ||
| NR_047693.2:n.1150-80T>C | ||
| NR_047694.2:n.1073-80T>C | ||
| NR_047695.2:n.844-80T>C |