Linked Data
MyVariant Identifiers:
chr19:g.51295050T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50791793T>C , CM000681.2:g.50791793T>C | GRCh38 |
| NC_000019.9:g.51295050T>C , CM000681.1:g.51295050T>C | GRCh37 |
| NC_000019.8:g.55986862T>C | NCBI36 |
| NG_052652.1:g.6379T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270593.2:c.441T>C (ACP4) MANE Select | ENSP00000270593.1:p.Ala147= | |
| ENST00000636757.1:c.-60+612A>G (SMIM47) | ENSP00000489695.1:n.-60+612A>G | |
| ENST00000270593.1:c.441T>C (ACP4) | ENSP00000270593.1:p.Ala147= | |
| NM_033068.2:c.441T>C (ACP4) | NP_149059.1:p.Ala147= | |
| XR_936026.1:n.424+612A>G | ||
| XR_936026.2:n.434+612A>G | ||
| NM_033068.3:c.441T>C (ACP4) MANE Select | NP_149059.1:p.Ala147= |