Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88523706G>A , CM000666.2:g.88523706G>A | GRCh38 |
| NC_000004.11:g.89444857G>A , CM000666.1:g.89444857G>A | GRCh37 |
| NC_000004.10:g.89663880G>A | NCBI36 |
| NG_046719.1:g.5096C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273968.5:c.-6C>T (PYURF) MANE Select | ENSP00000273968.4:n.-6C>T | |
| ENST00000527353.2:c.-449C>T (PIGY) MANE Select | ENSP00000432688.1:n.-449C>T | |
| ENST00000273968.4:c.-6C>T (PYURF) | ENSP00000273968.4:n.-6C>T | |
| ENST00000601319.1:n.1191G>A (HERC3) | ||
| NM_001042616.2:c.-449C>T (PIGY) | NP_001036081.1:n.-449C>T | |
| NM_032906.4:c.-6C>T (PYURF) | NP_116295.1:n.-6C>T | |
| NM_032906.5:c.-6C>T (PYURF) MANE Select | NP_116295.1:n.-6C>T | |
| NM_001042616.3:c.-449C>T (PIGY) MANE Select | NP_001036081.1:n.-449C>T |