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.41341439A= , CM000685.2:g.41341439A= | GRCh38 |
| NC_000023.10:g.41200692A= , CM000685.1:g.41200692A= | GRCh37 |
| NC_000023.9:g.41085636A= | NCBI36 |
| NG_012830.1:g.13042A= | |
| NG_012830.2:g.13042A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642322.2:c.284-45A= | ENSP00000496052.2:n.284-45A= | |
| ENST00000399959.7:c.149-45A= | ENSP00000382840.3:n.149-45A= | |
| ENST00000441189.4:c.152-45A= | ENSP00000414281.3:n.152-45A= | |
| ENST00000457138.7:c.104-45A= | ENSP00000392494.2:n.104-45A= | |
| ENST00000610559.5:n.543-45A= | ||
| ENST00000611546.2:n.458-45A= | ||
| ENST00000615313.5:c.110-45A= | ENSP00000496257.1:n.110-45A= | |
| ENST00000622198.5:n.309-45A= | ||
| ENST00000629496.3:c.152-45A= | ENSP00000487224.1:n.152-45A= | |
| ENST00000631641.2:n.195-45A= | ||
| ENST00000642161.1:n.1428A= | ||
| ENST00000642322.1:c.-407-45A= | ENSP00000496052.1:n.-407-45A= | |
| ENST00000642424.1:c.-452A= | ENSP00000496356.1:n.-452A= | |
| ENST00000642589.1:n.1497A= | ||
| ENST00000642597.1:n.243-45A= | ||
| ENST00000642624.1:n.42-45A= | ||
| ENST00000642722.1:n.243-45A= | ||
| ENST00000642763.1:n.120A= | ||
| ENST00000642793.1:c.152-45A= | ENSP00000493976.1:n.152-45A= | |
| ENST00000643963.1:c.152-45A= | ENSP00000495264.1:n.152-45A= | |
| ENST00000644073.1:c.110-45A= | ENSP00000493475.1:n.110-45A= | |
| ENST00000644074.1:c.149-45A= | ENSP00000496663.1:n.149-45A= | |
| ENST00000644109.1:c.149-45A= | ENSP00000494952.1:n.149-45A= | |
| ENST00000644307.1:n.243-45A= | ||
| ENST00000644513.1:c.152-45A= | ENSP00000493819.1:n.152-45A= | |
| ENST00000644677.1:c.35-45A= | ENSP00000496524.1:n.35-45A= | |
| ENST00000644876.2:c.152-45A= MANE Select | ENSP00000494040.1:n.152-45A= | |
| ENST00000644958.1:n.1813-45A= | ||
| ENST00000645080.1:c.*1374-45A= | ENSP00000494767.1:n.*1374-45A= | |
| ENST00000645120.1:n.1647-45A= | ||
| ENST00000645253.1:n.1530A= | ||
| ENST00000645338.1:n.243-45A= | ||
| ENST00000645380.1:n.1492A= | ||
| ENST00000645561.1:n.243-45A= | ||
| ENST00000645574.1:n.1418A= | ||
| ENST00000645589.1:c.152-45A= | ENSP00000494588.1:n.152-45A= | |
| ENST00000645783.1:c.*1251-45A= | ENSP00000494905.1:n.*1251-45A= | |
| ENST00000646107.1:c.35-45A= | ENSP00000494518.1:n.35-45A= | |
| ENST00000646122.1:c.152-45A= | ENSP00000496222.1:n.152-45A= | |
| ENST00000646196.1:n.243-45A= | ||
| ENST00000646223.1:c.*145-45A= | ENSP00000496043.1:n.*145-45A= | |
| ENST00000646319.1:c.152-45A= | ENSP00000495377.1:n.152-45A= | |
| ENST00000646390.1:n.1434A= | ||
| ENST00000646627.1:c.-407-45A= | ENSP00000493795.1:n.-407-45A= | |
| ENST00000646679.1:c.-452A= | ENSP00000494887.1:n.-452A= | |
| ENST00000646822.1:n.243-45A= | ||
| ENST00000646940.1:n.243-45A= | ||
| ENST00000647219.1:n.137-45A= | ||
| ENST00000399959.6:c.152-45A= | ENSP00000382840.2:n.152-45A= | |
| ENST00000441189.3:c.152-45A= | ENSP00000414281.2:n.152-45A= | |
| ENST00000457138.6:c.104-45A= | ENSP00000392494.2:n.104-45A= | |
| ENST00000478993.5:c.152-45A= | ENSP00000478443.1:n.152-45A= | |
| ENST00000542215.5:n.286-45A= | ||
| ENST00000611546.1:n.284-45A= | ||
| ENST00000615313.4:n.388-45A= | ||
| ENST00000615742.4:c.152-45A= | ENSP00000480647.1:n.152-45A= | |
| ENST00000622198.4:n.253-45A= | ||
| ENST00000625837.2:c.152-45A= | ENSP00000486306.1:n.152-45A= | |
| ENST00000626301.2:c.152-45A= | ENSP00000486443.1:n.152-45A= | |
| ENST00000629496.2:c.152-45A= | ENSP00000487224.1:n.152-45A= | |
| ENST00000629785.2:c.152-45A= | ENSP00000486516.1:n.152-45A= | |
| ENST00000630255.2:c.152-45A= | ENSP00000486720.1:n.152-45A= | |
| ENST00000630370.2:c.152-45A= | ENSP00000487062.1:n.152-45A= | |
| ENST00000630858.2:c.152-45A= | ENSP00000486514.1:n.152-45A= | |
| ENST00000631641.1:c.104-45A= | ENSP00000488854.1:n.104-45A= | |
| NM_001193416.2:c.152-45A= | NP_001180345.1:n.152-45A= | |
| NM_001193417.2:c.104-45A= | NP_001180346.1:n.104-45A= | |
| NM_001356.4:c.152-45A= | NP_001347.3:n.152-45A= | |
| NR_126093.1:n.1097-45A= | ||
| XM_011543892.1:c.152-45A= | XP_011542194.1:n.152-45A= | |
| NM_001363819.1:c.-407-45A= | NP_001350748.1:n.-407-45A= | |
| XM_011543892.2:c.152-45A= | XP_011542194.1:n.152-45A= | |
| XM_017029313.1:c.-407-45A= | XP_016884802.1:n.-407-45A= | |
| NM_001193416.3:c.152-45A= | NP_001180345.1:n.152-45A= | |
| NM_001193417.3:c.104-45A= | NP_001180346.1:n.104-45A= | |
| NM_001356.5:c.152-45A= MANE Select | NP_001347.3:n.152-45A= |