Revel Score:
ENST00000317578 (MANE Select)
0.525
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00033899 (NFE)
Genomes Max Group AF
0.00026704 (NFE)
Exomes Max Group AF
0.00033724 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45768373C>T , CM000681.2:g.45768373C>T | GRCh38 |
| NC_000019.9:g.46271631C>T , CM000681.1:g.46271631C>T | GRCh37 |
| NC_000019.8:g.50963471C>T | NCBI36 |
| NG_009784.1:g.19185G>A | |
| NG_012745.1:g.5867G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.472G>A (SIX5) MANE Select | ENSP00000316842.4:p.Ala158Thr | |
| ENST00000317578.6:c.472G>A (SIX5) | ENSP00000316842.4:p.Ala158Thr | |
| ENST00000560160.1:c.255G>A (SIX5) | ||
| ENST00000560168.1:c.131-261G>A (SIX5) | ENSP00000453189.2:n.131-261G>A | |
| ENST00000622857.1:c.15+457G>A (SIX5) | ENSP00000481365.1:n.15+457G>A | |
| NM_175875.4:c.472G>A (SIX5) | NP_787071.2:p.Ala158Thr | |
| NR_147193.1:n.336+242C>T (DM1-AS) | ||
| NM_175875.5:c.472G>A (SIX5) MANE Select | NP_787071.3:p.Ala158Thr |