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_000005.10:g.59215762T= , CM000667.2:g.59215762T= | GRCh38 |
| NC_000005.9:g.58511588T= , CM000667.1:g.58511588T= | GRCh37 |
| NC_000005.8:g.58547345T= | NCBI36 |
| NG_027957.1:g.1277338A= | |
| NG_027957.2:g.1313568A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000507116.6:c.455+15A= | ENSP00000424852.1:n.455+15A= | |
| ENST00000340635.11:c.647+15A= MANE Select | ENSP00000345502.6:n.647+15A= | |
| ENST00000636120.1:c.317+15A= | ENSP00000490821.1:n.317+15A= | |
| ENST00000638939.1:c.212+15A= | ENSP00000492052.1:n.212+15A= | |
| ENST00000309641.10:c.455+15A= | ENSP00000308485.6:n.455+15A= | |
| ENST00000340635.10:c.647+15A= | ENSP00000345502.6:n.647+15A= | |
| ENST00000360047.9:c.239+15A= | ENSP00000353152.5:n.239+15A= | |
| ENST00000405053.7:n.310+15A= | ||
| ENST00000405755.6:c.281+15A= | ENSP00000384806.2:n.281+15A= | |
| ENST00000502484.6:c.464+15A= | ENSP00000423094.2:n.464+15A= | |
| ENST00000502575.1:c.455+15A= | ENSP00000425917.1:n.455+15A= | |
| ENST00000503258.5:c.257+15A= | ENSP00000425605.1:n.257+15A= | |
| ENST00000505453.1:c.-98-176791A= | ENSP00000421013.1:n.-98-176791A= | |
| ENST00000507116.5:c.455+15A= | ENSP00000424852.1:n.455+15A= | |
| ENST00000514231.1:n.425A= | ||
| ENST00000515324.1:n.159+15A= | ||
| ENST00000546160.5:c.254+15A= | ENSP00000442734.2:n.254+15A= | |
| ENST00000621323.4:n.192+15A= | ||
| NM_001104631.1:c.647+15A= | NP_001098101.1:n.647+15A= | |
| NM_001165899.1:c.464+15A= | NP_001159371.1:n.464+15A= | |
| NM_001197218.1:c.455+15A= | NP_001184147.1:n.455+15A= | |
| NM_001197219.1:c.281+15A= | NP_001184148.1:n.281+15A= | |
| NM_001197220.1:c.257+15A= | NP_001184149.1:n.257+15A= | |
| NM_006203.4:c.239+15A= | NP_006194.2:n.239+15A= | |
| XM_005248537.2:c.317+15A= | XP_005248594.1:n.317+15A= | |
| XM_005248538.3:c.239+15A= | XP_005248595.1:n.239+15A= | |
| XM_011543469.1:c.611+15A= | XP_011541771.1:n.611+15A= | |
| XM_011543470.1:c.611+15A= | XP_011541772.1:n.611+15A= | |
| XM_011543471.1:c.464+15A= | XP_011541773.1:n.464+15A= | |
| XM_011543472.1:c.464+15A= | XP_011541774.1:n.464+15A= | |
| XM_011543473.1:c.464+15A= | XP_011541775.1:n.464+15A= | |
| XM_011543474.1:c.434+15A= | XP_011541776.1:n.434+15A= | |
| XM_011543475.1:c.281+15A= | XP_011541777.1:n.281+15A= | |
| XM_011543476.1:c.227+15A= | XP_011541778.1:n.227+15A= | |
| XM_011543477.1:c.206+15A= | XP_011541779.1:n.206+15A= | |
| XM_011543478.1:c.143+15A= | XP_011541780.1:n.143+15A= | |
| XM_011543479.1:c.143+15A= | XP_011541781.1:n.143+15A= | |
| NM_001349241.1:c.434+15A= | NP_001336170.1:n.434+15A= | |
| NM_001349242.1:c.317+15A= | NP_001336171.1:n.317+15A= | |
| NM_001349243.1:c.-48+15A= | NP_001336172.1:n.-48+15A= | |
| NM_001364599.1:c.464+15A= | NP_001351528.1:n.464+15A= | |
| NM_001364600.1:c.464+15A= | NP_001351529.1:n.464+15A= | |
| NM_001364601.1:c.*11A= | NP_001351530.1:n.*11A= | |
| NM_001364602.1:c.455+15A= | NP_001351531.1:n.455+15A= | |
| NM_001364603.1:c.-304+15A= | NP_001351532.1:n.-304+15A= | |
| NM_001364604.1:c.-48+15A= | NP_001351533.1:n.-48+15A= | |
| XM_011543470.2:c.611+15A= | XP_011541772.1:n.611+15A= | |
| XM_011543471.2:c.464+15A= | XP_011541773.1:n.464+15A= | |
| XM_017009565.1:c.611+15A= | XP_016865054.1:n.611+15A= | |
| XM_017009566.1:c.464+15A= | XP_016865055.1:n.464+15A= | |
| XM_017009567.1:c.449+15A= | XP_016865056.1:n.449+15A= | |
| XM_024446110.1:c.611+15A= | XP_024301878.1:n.611+15A= | |
| XM_024446112.1:c.464+15A= | XP_024301880.1:n.464+15A= | |
| NM_001104631.2:c.647+15A= MANE Select | NP_001098101.1:n.647+15A= | |
| NM_001165899.2:c.464+15A= | NP_001159371.1:n.464+15A= | |
| NM_001197218.2:c.455+15A= | NP_001184147.1:n.455+15A= | |
| NM_001197219.2:c.281+15A= | NP_001184148.1:n.281+15A= | |
| NM_001197220.2:c.257+15A= | NP_001184149.1:n.257+15A= | |
| NM_001349241.2:c.434+15A= | NP_001336170.1:n.434+15A= | |
| NM_001349243.2:c.-48+15A= | NP_001336172.1:n.-48+15A= | |
| NM_001364600.2:c.464+15A= | NP_001351529.1:n.464+15A= | |
| NM_001364602.2:c.455+15A= | NP_001351531.1:n.455+15A= | |
| NM_001349242.2:c.317+15A= | NP_001336171.1:n.317+15A= | |
| NM_006203.5:c.239+15A= | NP_006194.2:n.239+15A= |