Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50791807G= , CM000681.2:g.50791807G= | GRCh38 |
| NC_000019.9:g.51295064G= , CM000681.1:g.51295064G= | GRCh37 |
| NC_000019.8:g.55986876G= | NCBI36 |
| NG_052652.1:g.6393G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270593.2:c.450+5G= (ACP4) MANE Select | ENSP00000270593.1:n.450+5G= | |
| ENST00000636757.1:c.-60+598C= (SMIM47) | ENSP00000489695.1:n.-60+598C= | |
| ENST00000270593.1:c.450+5G= (ACP4) | ENSP00000270593.1:n.450+5G= | |
| NM_033068.2:c.450+5G= (ACP4) | NP_149059.1:n.450+5G= | |
| XR_936026.1:n.424+598C= | ||
| XR_936026.2:n.434+598C= | ||
| NM_033068.3:c.450+5G= (ACP4) MANE Select | NP_149059.1:n.450+5G= |