Revel Score:
ENST00000261170 (MANE Select)
0.920
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14622087C>A , CM000674.2:g.14622087C>A | GRCh38 |
| NC_000012.11:g.14775021C>A , CM000674.1:g.14775021C>A | GRCh37 |
| NC_000012.10:g.14666288C>A | NCBI36 |
| NG_052021.1:g.79499G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261170.5:c.2519G>T (GUCY2C) MANE Select | ENSP00000261170.3:p.Ser840Ile | |
| ENST00000261170.4:c.2519G>T (GUCY2C) | ENSP00000261170.3:p.Ser840Ile | |
| NM_004963.3:c.2519G>T (GUCY2C) | NP_004954.2:p.Ser840Ile | |
| XM_011520631.1:c.2273G>T (GUCY2C) | XP_011518933.1:p.Ser758Ile | |
| XM_011520631.2:c.2273G>T (GUCY2C) | XP_011518933.1:p.Ser758Ile | |
| XR_001748595.1:n.700+2171C>A (C12orf60) | ||
| XR_001748596.1:n.700+2171C>A (C12orf60) | ||
| XR_001748597.1:n.700+2171C>A (C12orf60) | ||
| XR_001748598.2:n.700+2171C>A (C12orf60) | ||
| XR_001748599.1:n.700+2171C>A (C12orf60) | ||
| NM_004963.4:c.2519G>T (GUCY2C) MANE Select | NP_004954.2:p.Ser840Ile |