Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50791776C>A , CM000681.2:g.50791776C>A | GRCh38 |
| NC_000019.9:g.51295033C>A , CM000681.1:g.51295033C>A | GRCh37 |
| NC_000019.8:g.55986845C>A | NCBI36 |
| NG_052652.1:g.6362C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270593.2:c.424C>A (ACP4) MANE Select | ENSP00000270593.1:p.His142Asn | |
| ENST00000636757.1:c.-60+629G>T (SMIM47) | ENSP00000489695.1:n.-60+629G>T | |
| ENST00000270593.1:c.424C>A (ACP4) | ENSP00000270593.1:p.His142Asn | |
| NM_033068.2:c.424C>A (ACP4) | NP_149059.1:p.His142Asn | |
| XR_936026.1:n.424+629G>T | ||
| XR_936026.2:n.434+629G>T | ||
| NM_033068.3:c.424C>A (ACP4) MANE Select | NP_149059.1:p.His142Asn |