Linked Data
MyVariant Identifiers:
chr21:g.43172111A>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43172111A>T , CM000683.2:g.43172111A>T | GRCh38 |
| NG_009823.1:g.8081A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.353A>T MANE Select | ENSP00000291554.2:p.Tyr118Phe | |
| ENST00000398132.1:c.242A>T | ENSP00000381200.1:p.Tyr81Phe | |
| ENST00000398133.5:c.293A>T | ENSP00000381201.1:p.Tyr98Phe | |
| ENST00000468016.1:n.454A>T | ||
| ENST00000482775.1:n.434A>T | ||
| NM_000394.3:c.353A>T | NP_000385.1:p.Tyr118Phe | |
| XM_005261093.2:c.242A>T | XP_005261150.1:p.Tyr81Phe | |
| NM_001363766.1:c.242A>T | NP_001350695.1:p.Tyr81Phe | |
| NM_000394.4:c.353A>T MANE Select | NP_000385.1:p.Tyr118Phe |