Linked Data
MyVariant Identifiers:
chr21:g.43172120C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43172120C>A , CM000683.2:g.43172120C>A | GRCh38 |
| NG_009823.1:g.8090C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.362C>A MANE Select | ENSP00000291554.2:p.Pro121Gln | |
| ENST00000398132.1:c.251C>A | ENSP00000381200.1:p.Pro84Gln | |
| ENST00000398133.5:c.302C>A | ENSP00000381201.1:p.Pro101Gln | |
| ENST00000468016.1:n.463C>A | ||
| ENST00000482775.1:n.443C>A | ||
| NM_000394.3:c.362C>A | NP_000385.1:p.Pro121Gln | |
| XM_005261093.2:c.251C>A | XP_005261150.1:p.Pro84Gln | |
| NM_001363766.1:c.251C>A | NP_001350695.1:p.Pro84Gln | |
| NM_000394.4:c.362C>A MANE Select | NP_000385.1:p.Pro121Gln |