Revel Score:
ENST00000261170 (MANE Select)
0.379
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14672883T>C , CM000674.2:g.14672883T>C | GRCh38 |
| NC_000012.11:g.14825817T>C , CM000674.1:g.14825817T>C | GRCh37 |
| NC_000012.10:g.14717084T>C | NCBI36 |
| NG_052021.1:g.28703A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261170.5:c.1160A>G (GUCY2C) MANE Select | ENSP00000261170.3:p.Asp387Gly | |
| ENST00000261170.4:c.1160A>G (GUCY2C) | ENSP00000261170.3:p.Asp387Gly | |
| NM_004963.3:c.1160A>G (GUCY2C) | NP_004954.2:p.Asp387Gly | |
| XM_011520631.1:c.914A>G (GUCY2C) | XP_011518933.1:p.Asp305Gly | |
| XM_011520631.2:c.914A>G (GUCY2C) | XP_011518933.1:p.Asp305Gly | |
| XM_024448858.1:c.-762+569T>C (C12orf60) | XP_024304626.1:n.-762+569T>C | |
| XM_024448859.1:c.-762+569T>C (C12orf60) | XP_024304627.1:n.-762+569T>C | |
| XR_001748595.1:n.904+569T>C (C12orf60) | ||
| XR_001748597.1:n.701-45152T>C (C12orf60) | ||
| NM_004963.4:c.1160A>G (GUCY2C) MANE Select | NP_004954.2:p.Asp387Gly |