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_000023.11:g.154413351C= , CM000685.2:g.154413351C= | GRCh38 |
| NC_000023.10:g.153641688C= , CM000685.1:g.153641688C= | GRCh37 |
| NC_000023.9:g.153294882C= | NCBI36 |
| NG_009634.1:g.6812C= | |
| NG_012884.2:g.3738G= | |
| NG_009634.2:g.6817C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698234.1:n.811C= | ||
| ENST00000698235.1:n.358+12C= | ||
| ENST00000698317.1:n.1337C= | ||
| ENST00000698318.1:n.1198C= | ||
| ENST00000470127.2:n.432C= | ||
| ENST00000475699.6:c.338+99C= | ENSP00000419854.3:n.338+99C= | |
| ENST00000476800.2:n.1340C= | ||
| ENST00000483674.3:n.175+99C= | ||
| ENST00000601016.6:c.284+99C= MANE Select | ENSP00000469981.1:n.284+99C= | |
| ENST00000612012.5:c.284+99C= | ENSP00000482070.2:n.284+99C= | |
| ENST00000612460.5:c.284+99C= | ENSP00000481037.1:n.284+99C= | |
| ENST00000614595.2:n.1721+12C= | ||
| ENST00000615658.5:n.597+99C= | ||
| ENST00000616020.5:c.338+99C= | ENSP00000483636.2:n.338+99C= | |
| ENST00000617701.5:c.*95C= | ENSP00000481645.1:n.*95C= | |
| ENST00000621647.2:n.436C= | ||
| ENST00000652354.1:c.8+99C= | ENSP00000498734.1:n.8+99C= | |
| ENST00000652358.1:c.77+12C= | ENSP00000498464.1:n.77+12C= | |
| ENST00000652390.1:c.203+99C= | ENSP00000498858.1:n.203+99C= | |
| ENST00000652476.1:n.544C= | ||
| ENST00000652682.1:c.284+99C= | ENSP00000498288.1:n.284+99C= | |
| ENST00000652685.1:n.435C= | ||
| ENST00000369776.8:c.209+99C= | ENSP00000358791.4:n.209+99C= | |
| ENST00000426231.5:c.199C= | ||
| ENST00000439735.2:c.284+99C= | ENSP00000398193.1:n.284+99C= | |
| ENST00000475699.5:c.284+99C= | ENSP00000419854.2:n.284+99C= | |
| ENST00000476679.5:n.197+99C= | ||
| ENST00000476800.1:n.261C= | ||
| ENST00000479875.1:n.313+99C= | ||
| ENST00000483780.5:n.58+99C= | ||
| ENST00000601016.5:c.284+99C= | ENSP00000469981.1:n.284+99C= | |
| ENST00000612012.4:c.338+99C= | ENSP00000482070.1:n.338+99C= | |
| ENST00000612460.4:c.284+99C= | ENSP00000481037.1:n.284+99C= | |
| ENST00000613002.4:c.284+99C= | ENSP00000478154.1:n.284+99C= | |
| ENST00000613634.4:n.604+99C= | ||
| ENST00000615658.4:n.697+12C= | ||
| ENST00000615986.4:c.*95C= | ENSP00000480133.1:n.*95C= | |
| ENST00000616020.4:c.338+99C= | ENSP00000483636.1:n.338+99C= | |
| ENST00000617701.4:c.*95C= | ENSP00000481645.1:n.*95C= | |
| ENST00000620808.4:c.*83+12C= | ENSP00000479311.1:n.*83+12C= | |
| ENST00000621647.1:n.668C= | ||
| NM_000116.4:c.284+99C= | NP_000107.1:n.284+99C= | |
| NM_001303465.1:c.338+99C= | NP_001290394.1:n.338+99C= | |
| NM_181311.3:c.284+99C= | NP_851828.1:n.284+99C= | |
| NM_181312.3:c.284+99C= | NP_851829.1:n.284+99C= | |
| NM_181313.3:c.284+99C= | NP_851830.1:n.284+99C= | |
| NR_024048.2:n.709C= | ||
| XM_006724836.1:c.338+99C= | XP_006724899.1:n.338+99C= | |
| XM_006724837.1:c.338+99C= | XP_006724900.1:n.338+99C= | |
| XM_006724839.1:c.338+99C= | XP_006724902.1:n.338+99C= | |
| XM_006724841.2:c.77+12C= | XP_006724904.1:n.77+12C= | |
| XM_006724842.2:c.77+12C= | XP_006724905.1:n.77+12C= | |
| XM_011531189.1:c.338+99C= | XP_011529491.1:n.338+99C= | |
| XM_011531190.1:c.77+12C= | XP_011529492.1:n.77+12C= | |
| XM_011531191.1:c.8+99C= | XP_011529493.1:n.8+99C= | |
| XM_011531192.1:c.-15C= | XP_011529494.1:n.-15C= | |
| XR_938511.1:n.641+99C= | ||
| XM_006724841.4:c.77+12C= | XP_006724904.1:n.77+12C= | |
| XM_006724842.4:c.77+12C= | XP_006724905.1:n.77+12C= | |
| XM_011531191.2:c.8+99C= | XP_011529493.1:n.8+99C= | |
| XM_017029761.1:c.284+99C= | XP_016885250.1:n.284+99C= | |
| XM_017029762.1:c.338+99C= | XP_016885251.1:n.338+99C= | |
| XM_017029763.1:c.284+99C= | XP_016885252.1:n.284+99C= | |
| XM_017029764.1:c.-15C= | XP_016885253.1:n.-15C= | |
| XM_017029765.2:c.77+12C= | XP_016885254.1:n.77+12C= | |
| XM_024452431.1:c.338+99C= | XP_024308199.1:n.338+99C= | |
| NM_000116.5:c.284+99C= MANE Select | NP_000107.1:n.284+99C= | |
| NM_001303465.2:c.338+99C= | NP_001290394.1:n.338+99C= | |
| NM_181311.4:c.284+99C= | NP_851828.1:n.284+99C= | |
| NM_181312.4:c.284+99C= | NP_851829.1:n.284+99C= | |
| NM_181313.4:c.284+99C= | NP_851830.1:n.284+99C= | |
| NR_024048.3:n.688C= |