Linked Data
dbSNP Id:
rs27038
gnomAD v2:
5-96112954-A-G
gnomAD v3:
5-96777250-A-G
gnomAD v4:
5-96777250-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96777250A>G , CM000667.2:g.96777250A>G | GRCh38 |
| NC_000005.9:g.96112954A>G , CM000667.1:g.96112954A>G | GRCh37 |
| NC_000005.8:g.96138710A>G | NCBI36 |
| NG_027839.1:g.41895T>C | |
| NG_027839.2:g.163734T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000443439.7:c.2671-699T>C (ERAP1) MANE Select | ENSP00000406304.2:n.2671-699T>C | |
| ENST00000296754.7:c.2671-699T>C (ERAP1) | ENSP00000296754.3:n.2671-699T>C | |
| ENST00000443439.6:c.2671-699T>C (ERAP1) | ENSP00000406304.2:n.2671-699T>C | |
| ENST00000510098.1:c.1049+296A>G (CAST) | ENSP00000427195.1:n.1049+296A>G | |
| ENST00000512852.1:c.207-699T>C (ERAP1) | ||
| NM_001040458.1:c.2671-699T>C (ERAP1) | NP_001035548.1:n.2671-699T>C | |
| NM_001198541.1:c.2671-699T>C (ERAP1) | NP_001185470.1:n.2671-699T>C | |
| NM_016442.3:c.2671-699T>C (ERAP1) | NP_057526.3:n.2671-699T>C | |
| XM_005272015.3:c.2671-699T>C (ERAP1) | XP_005272072.1:n.2671-699T>C | |
| XM_005272016.3:c.2671-699T>C (ERAP1) | XP_005272073.1:n.2671-699T>C | |
| XM_011543480.1:c.2671-699T>C (ERAP1) | XP_011541782.1:n.2671-699T>C | |
| XM_011543481.1:c.2671-699T>C (ERAP1) | XP_011541783.1:n.2671-699T>C | |
| XM_011543482.1:c.2671-699T>C (ERAP1) | XP_011541784.1:n.2671-699T>C | |
| XM_011543483.1:c.2671-699T>C (ERAP1) | XP_011541785.1:n.2671-699T>C | |
| XM_011543484.1:c.2671-699T>C (ERAP1) | XP_011541786.1:n.2671-699T>C | |
| XM_011543485.1:c.2671-699T>C (ERAP1) | XP_011541787.1:n.2671-699T>C | |
| XM_011543486.1:c.2671-699T>C (ERAP1) | XP_011541788.1:n.2671-699T>C | |
| XM_011543487.1:c.2671-699T>C (ERAP1) | XP_011541789.1:n.2671-699T>C | |
| XR_948593.1:n.397+296A>G | ||
| XR_948595.1:n.397+296A>G | ||
| NM_001040458.2:c.2671-699T>C (ERAP1) | NP_001035548.1:n.2671-699T>C | |
| NM_001198541.2:c.2671-699T>C (ERAP1) | NP_001185470.1:n.2671-699T>C | |
| NM_001349244.1:c.2671-699T>C (ERAP1) | NP_001336173.1:n.2671-699T>C | |
| NM_016442.4:c.2671-699T>C (ERAP1) | NP_057526.3:n.2671-699T>C | |
| XM_005272015.5:c.2671-699T>C (ERAP1) | XP_005272072.1:n.2671-699T>C | |
| XM_005272016.4:c.2671-699T>C (ERAP1) | XP_005272073.1:n.2671-699T>C | |
| XM_011543480.2:c.2671-699T>C (ERAP1) | XP_011541782.1:n.2671-699T>C | |
| XM_011543481.2:c.2671-699T>C (ERAP1) | XP_011541783.1:n.2671-699T>C | |
| XM_011543484.2:c.2671-699T>C (ERAP1) | XP_011541786.1:n.2671-699T>C | |
| XM_011543485.2:c.2671-699T>C (ERAP1) | XP_011541787.1:n.2671-699T>C | |
| XM_011543486.3:c.2671-699T>C (ERAP1) | XP_011541788.1:n.2671-699T>C | |
| XM_017009581.1:c.2671-699T>C (ERAP1) | XP_016865070.1:n.2671-699T>C | |
| XM_017009583.2:c.1576-699T>C (ERAP1) | XP_016865072.1:n.1576-699T>C | |
| XM_024446113.1:c.2671-699T>C (ERAP1) | XP_024301881.1:n.2671-699T>C | |
| XR_001742119.2:n.2809-699T>C (ERAP1) | ||
| XR_001742445.1:n.408+296A>G | ||
| XR_001742446.1:n.408+296A>G | ||
| NM_001040458.3:c.2671-699T>C (ERAP1) MANE Select | NP_001035548.1:n.2671-699T>C | |
| NM_001198541.3:c.2671-699T>C (ERAP1) | NP_001185470.1:n.2671-699T>C | |
| NM_001349244.2:c.2671-699T>C (ERAP1) | NP_001336173.1:n.2671-699T>C | |
| NM_016442.5:c.2671-699T>C (ERAP1) | NP_057526.3:n.2671-699T>C |