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
MyVariant Identifiers:
chr20:g.44052878C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45424238C>G , CM000682.2:g.45424238C>G | GRCh38 |
| NC_000020.10:g.44052878C>G , CM000682.1:g.44052878C>G | GRCh37 |
| NC_000020.9:g.43486292C>G | NCBI36 |
| NG_047154.1:g.13172C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000424705.3:c.1257C>G | ENSP00000491856.2:p.Ala419= | |
| ENST00000638691.2:c.1257C>G | ENSP00000492094.2:p.Ala419= | |
| ENST00000639292.2:c.1338C>G | ENSP00000491678.2:p.Ala446= | |
| ENST00000640549.2:c.1257C>G | ENSP00000492043.2:p.Ala419= | |
| ENST00000687237.1:n.647C>G | ||
| ENST00000689203.1:c.1257C>G | ENSP00000508682.1:p.Ala419= | |
| ENST00000690879.1:n.733C>G | ||
| ENST00000692236.1:c.1257C>G | ENSP00000509421.1:p.Ala419= | |
| ENST00000279035.14:c.951C>G | ENSP00000279035.8:p.Ala317= | |
| ENST00000279036.12:c.1257C>G MANE Select | ENSP00000279036.6:p.Ala419= | |
| ENST00000432270.2:c.750C>G | ENSP00000408354.2:p.Ala250= | |
| ENST00000543458.7:c.1089C>G | ENSP00000441577.1:p.Ala363= | |
| ENST00000545755.3:c.675C>G | ENSP00000443963.3:p.Ala225= | |
| ENST00000638241.1:n.1135C>G | ||
| ENST00000638246.1:c.*757C>G | ENSP00000492883.1:n.*757C>G | |
| ENST00000638277.1:c.191C>G | ||
| ENST00000638383.1:c.*606C>G | ENSP00000492295.1:n.*606C>G | |
| ENST00000638387.1:c.*301C>G | ENSP00000492873.1:n.*301C>G | |
| ENST00000638415.1:c.794C>G | ||
| ENST00000638445.1:c.*641C>G | ENSP00000491297.1:n.*641C>G | |
| ENST00000638537.1:n.1046C>G | ||
| ENST00000638594.1:c.1257C>G | ENSP00000491697.1:p.Ala419= | |
| ENST00000638612.1:c.1257C>G | ENSP00000491458.1:p.Ala419= | |
| ENST00000638671.1:c.*641C>G | ENSP00000492875.1:n.*641C>G | |
| ENST00000638689.1:n.3464C>G | ||
| ENST00000638691.1:c.14C>G | ||
| ENST00000638710.1:c.1463C>G | ENSP00000491406.1:n.1463C>G | |
| ENST00000638714.1:c.*641C>G | ENSP00000491194.1:n.*641C>G | |
| ENST00000638745.1:c.*641C>G | ENSP00000491744.1:n.*641C>G | |
| ENST00000638927.1:c.399C>G | ENSP00000492335.1:p.Ala133= | |
| ENST00000638938.1:c.*713C>G | ENSP00000491171.1:n.*713C>G | |
| ENST00000638962.1:n.1217C>G | ||
| ENST00000638978.1:c.1207C>G | ENSP00000492743.1:p.Pro403Ala | |
| ENST00000639250.1:n.2507C>G | ||
| ENST00000639292.1:c.1117C>G | ||
| ENST00000639382.1:c.1116C>G | ENSP00000491534.1:p.Ala372= | |
| ENST00000639417.1:c.*301C>G | ENSP00000491058.1:n.*301C>G | |
| ENST00000639499.1:c.1257C>G | ENSP00000491170.1:p.Ala419= | |
| ENST00000639664.1:n.984C>G | ||
| ENST00000639783.1:c.*559C>G | ENSP00000491772.1:n.*559C>G | |
| ENST00000639872.1:n.826C>G | ||
| ENST00000639932.1:c.*559C>G | ENSP00000491600.1:n.*559C>G | |
| ENST00000639984.1:c.*559C>G | ENSP00000492727.1:n.*559C>G | |
| ENST00000640107.1:c.*517C>G | ENSP00000491118.1:n.*517C>G | |
| ENST00000640108.1:c.*946C>G | ENSP00000492007.1:n.*946C>G | |
| ENST00000640175.1:c.*559C>G | ENSP00000492418.1:n.*559C>G | |
| ENST00000640194.1:c.*576C>G | ENSP00000492279.1:n.*576C>G | |
| ENST00000640210.1:c.846C>G | ENSP00000491164.1:p.Ala282= | |
| ENST00000640253.1:n.471C>G | ||
| ENST00000640272.1:c.*641C>G | ENSP00000492270.1:n.*641C>G | |
| ENST00000640324.1:c.1263C>G | ENSP00000491074.1:p.Ala421= | |
| ENST00000640364.1:n.1980C>G | ||
| ENST00000640542.1:c.1056C>G | ENSP00000492174.1:p.Ala352= | |
| ENST00000640549.1:c.747C>G | ENSP00000492043.1:p.Ala249= | |
| ENST00000640585.1:c.*914C>G | ENSP00000491308.1:n.*914C>G | |
| ENST00000640638.1:n.425C>G | ||
| ENST00000640666.1:c.1257C>G | ENSP00000491072.1:p.Ala419= | |
| ENST00000640692.1:c.*173C>G | ENSP00000492370.1:n.*173C>G | |
| ENST00000640940.1:n.919C>G | ||
| ENST00000640986.1:c.*374C>G | ENSP00000491886.1:n.*374C>G | |
| ENST00000640996.1:c.*934C>G | ENSP00000492464.1:n.*934C>G | |
| ENST00000279035.13:c.951C>G | ENSP00000279035.8:p.Ala317= | |
| ENST00000279036.10:c.1257C>G | ENSP00000279036.6:p.Ala419= | |
| ENST00000372689.9:c.1056C>G | ENSP00000361774.4:p.Ala352= | |
| ENST00000455050.2:c.*788C>G | ENSP00000407574.2:n.*788C>G | |
| ENST00000543458.6:c.1089C>G | ENSP00000441577.1:p.Ala363= | |
| ENST00000545755.2:c.286C>G | ||
| NM_001184728.2:c.1089C>G | NP_001171657.1:p.Ala363= | |
| NM_001184729.2:c.1056C>G | NP_001171658.1:p.Ala352= | |
| NM_001184730.2:c.951C>G | NP_001171659.1:p.Ala317= | |
| NM_015937.5:c.1257C>G | NP_057021.2:p.Ala419= | |
| NR_047691.1:n.1307C>G | ||
| NR_047692.1:n.1250C>G | ||
| NR_047693.1:n.1246C>G | ||
| NR_047694.1:n.1169C>G | ||
| NR_047695.1:n.940C>G | ||
| XM_005260430.2:c.750C>G | XP_005260487.1:p.Ala250= | |
| XM_005260432.1:c.471C>G | XP_005260489.1:p.Ala157= | |
| XM_005260432.3:c.471C>G | XP_005260489.1:p.Ala157= | |
| XR_001754286.2:n.1293C>G | ||
| XR_001754287.2:n.1092C>G | ||
| NM_015937.6:c.1257C>G MANE Select | NP_057021.2:p.Ala419= | |
| NM_001184728.3:c.1089C>G | NP_001171657.1:p.Ala363= | |
| NM_001184729.3:c.1056C>G | NP_001171658.1:p.Ala352= | |
| NM_001184730.3:c.951C>G | NP_001171659.1:p.Ala317= | |
| NR_047691.2:n.1233C>G | ||
| NR_047692.2:n.1176C>G | ||
| NR_047693.2:n.1172C>G | ||
| NR_047694.2:n.1095C>G | ||
| NR_047695.2:n.866C>G |