Revel Score:
ENST00000369779 (MANE Select)
0.194
ENST00000472422
0.194
ENST00000369781
0.194
ENST00000541986
0.194
ENST00000437429
0.046
gnomAD v4:
Joint Max Group AF
0.00000543 (NFE)
Exomes Max Group AF
0.00000576 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.110363861C>A , CM000663.2:g.110363861C>A | GRCh38 |
| NC_000001.10:g.110906483C>A , CM000663.1:g.110906483C>A | GRCh37 |
| NC_000001.9:g.110708006C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369779.9:c.1369G>T (SLC16A4) MANE Select | ENSP00000358794.4:p.Gly457Cys | |
| ENST00000369779.8:c.1369G>T (SLC16A4) | ENSP00000358794.4:p.Gly457Cys | |
| ENST00000369781.8:c.865G>T (SLC16A4) | ENSP00000358796.4:p.Gly289Cys | |
| ENST00000437429.6:c.1059G>T (SLC16A4) | ENSP00000394790.2:p.Met353Ile | |
| ENST00000461647.6:c.*558G>T (SLC16A4) | ENSP00000432190.1:n.*558G>T | |
| ENST00000472422.6:c.1225G>T (SLC16A4) | ENSP00000432495.1:p.Gly409Cys | |
| ENST00000492412.2:c.*1062G>T (SLC16A4) | ENSP00000433463.1:n.*1062G>T | |
| ENST00000528649.5:c.*983G>T (SLC16A4) | ENSP00000434136.1:n.*983G>T | |
| ENST00000541986.5:c.1183G>T (SLC16A4) | ENSP00000446087.1:p.Gly395Cys | |
| NM_001201546.1:c.1225G>T (SLC16A4) | NP_001188475.1:p.Gly409Cys | |
| NM_001201547.1:c.1183G>T (SLC16A4) | NP_001188476.1:p.Gly395Cys | |
| NM_001201548.1:c.1059G>T (SLC16A4) | NP_001188477.1:p.Met353Ile | |
| NM_001201549.1:c.865G>T (SLC16A4) | NP_001188478.1:p.Gly289Cys | |
| NM_004696.2:c.1369G>T (SLC16A4) | NP_004687.1:p.Gly457Cys | |
| XM_005271317.3:c.1369G>T (SLC16A4) | XP_005271374.1:p.Gly457Cys | |
| XM_005271318.2:c.679G>T (SLC16A4) | XP_005271375.1:p.Gly227Cys | |
| XM_006711033.2:c.1039G>T (SLC16A4) | XP_006711096.1:p.Gly347Cys | |
| XM_011541964.1:c.*2532+7830C>A (RBM15) | XP_011540266.1:n.*2532+7830C>A | |
| XM_011541965.1:c.*2434+7830C>A (RBM15) | XP_011540267.1:n.*2434+7830C>A | |
| XM_011541966.1:c.*2377-8279C>A (RBM15) | XP_011540268.1:n.*2377-8279C>A | |
| XM_011541967.1:c.*2279-8279C>A (RBM15) | XP_011540269.1:n.*2279-8279C>A | |
| XM_011541968.1:c.*1874+7830C>A (RBM15) | XP_011540270.1:n.*1874+7830C>A | |
| XM_011541969.1:c.*1787+7830C>A (RBM15) | XP_011540271.1:n.*1787+7830C>A | |
| XR_426639.1:n.1568G>T (SLC16A4) | ||
| NM_001319220.1:c.679G>T (SLC16A4) | NP_001306149.1:p.Gly227Cys | |
| XM_005271317.5:c.1369G>T (SLC16A4) | XP_005271374.1:p.Gly457Cys | |
| XM_006711033.3:c.1039G>T (SLC16A4) | XP_006711096.1:p.Gly347Cys | |
| XR_001737366.2:n.9246+7830C>A (RBM15) | ||
| XR_001737367.2:n.5690-8279C>A (RBM15) | ||
| NM_004696.3:c.1369G>T (SLC16A4) MANE Select | NP_004687.1:p.Gly457Cys | |
| NM_001201546.2:c.1225G>T (SLC16A4) | NP_001188475.1:p.Gly409Cys | |
| NM_001201549.2:c.865G>T (SLC16A4) | NP_001188478.1:p.Gly289Cys | |
| NM_001319220.2:c.679G>T (SLC16A4) | NP_001306149.1:p.Gly227Cys | |
| NM_001201547.2:c.1183G>T (SLC16A4) | NP_001188476.1:p.Gly395Cys | |
| NM_001201548.2:c.1059G>T (SLC16A4) | NP_001188477.1:p.Met353Ile |