Revel Score:
ENST00000200652 (MANE Select)
0.226
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001031 (NFE)
Exomes Max Group AF
0.00001013 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132327369T>G , CM000667.2:g.132327369T>G | GRCh38 |
| NC_000005.9:g.131663062T>G , CM000667.1:g.131663062T>G | GRCh37 |
| NC_000005.8:g.131690961T>G | NCBI36 |
| NG_012129.1:g.37918T>G | |
| NG_012129.2:g.37918T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000200652.4:c.917T>G (SLC22A4) MANE Select | ENSP00000200652.3:p.Ile306Arg | |
| ENST00000200652.3:c.917T>G (SLC22A4) | ENSP00000200652.3:p.Ile306Arg | |
| ENST00000425923.1:n.447T>G (SLC22A4) | ||
| NM_003059.2:c.917T>G (SLC22A4) | NP_003050.2:p.Ile306Arg | |
| NR_110997.1:n.824+4820A>C (MIR3936HG) | ||
| XM_006714675.2:c.389T>G (SLC22A4) | XP_006714738.1:p.Ile130Arg | |
| XM_011543589.1:c.641T>G (SLC22A4) | XP_011541891.1:p.Ile214Arg | |
| XM_006714675.4:c.389T>G (SLC22A4) | XP_006714738.1:p.Ile130Arg | |
| XM_011543589.2:c.641T>G (SLC22A4) | XP_011541891.1:p.Ile214Arg | |
| XM_017009776.1:c.389T>G (SLC22A4) | XP_016865265.1:p.Ile130Arg | |
| NM_003059.3:c.917T>G (SLC22A4) MANE Select | NP_003050.2:p.Ile306Arg |