Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14660998G>A , CM000674.2:g.14660998G>A | GRCh38 |
| NC_000012.11:g.14813932G>A , CM000674.1:g.14813932G>A | GRCh37 |
| NC_000012.10:g.14705199G>A | NCBI36 |
| NG_052021.1:g.40588C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004963.4:c.1347C>T (GUCY2C) MANE Select | NP_004954.2:p.Val449= |
| ENST00000261170.5:c.1347C>T (GUCY2C) MANE Select | ENSP00000261170.3:p.Val449= |
| NM_004963.3:c.1347C>T (GUCY2C) | NP_004954.2:p.Val449= |
| ENST00000261170.4:c.1347C>T (GUCY2C) | ENSP00000261170.3:p.Val449= |
| XM_011520631.1:c.1101C>T (GUCY2C) | XP_011518933.1:p.Val367= |
| XM_011520631.2:c.1101C>T (GUCY2C) | XP_011518933.1:p.Val367= |
| XR_001748595.1:n.701-4861G>A (C12orf60) | |
| XR_001748596.1:n.701-4861G>A (C12orf60) | |
| XR_001748597.1:n.700+41082G>A (C12orf60) |