Linked Data
gnomAD v4:
19-50791716-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50791716G>C , CM000681.2:g.50791716G>C | GRCh38 |
| NC_000019.9:g.51294973G>C , CM000681.1:g.51294973G>C | GRCh37 |
| NC_000019.8:g.55986785G>C | NCBI36 |
| NG_052652.1:g.6302G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270593.2:c.364G>C (ACP4) MANE Select | ENSP00000270593.1:p.Gly122Arg | |
| ENST00000636757.1:c.-60+689C>G (SMIM47) | ENSP00000489695.1:n.-60+689C>G | |
| ENST00000270593.1:c.364G>C (ACP4) | ENSP00000270593.1:p.Gly122Arg | |
| NM_033068.2:c.364G>C (ACP4) | NP_149059.1:p.Gly122Arg | |
| XR_936026.1:n.424+689C>G | ||
| XR_936026.2:n.434+689C>G | ||
| NM_033068.3:c.364G>C (ACP4) MANE Select | NP_149059.1:p.Gly122Arg |