Linked Data
MyVariant Identifiers:
chr16:g.31004478T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30993157T>A , CM000678.2:g.30993157T>A | GRCh38 |
| NC_000016.9:g.31004478T>A , CM000678.1:g.31004478T>A | GRCh37 |
| NC_000016.8:g.30911979T>A | NCBI36 |
| NG_041829.1:g.22352A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215095.11:c.759A>T MANE Select | ENSP00000215095.5:p.Ala253= | |
| ENST00000565419.2:c.759A>T | ENSP00000455899.1:p.Ala253= | |
| ENST00000215095.9:c.759A>T | ENSP00000215095.5:p.Ala253= | |
| ENST00000565419.1:c.759A>T | ENSP00000455899.1:p.Ala253= | |
| ENST00000569638.5:c.507A>T | ENSP00000457067.1:p.Ala169= | |
| NM_052874.4:c.759A>T | NP_443106.1:p.Ala253= | |
| XM_017022893.1:c.741A>T | XP_016878382.1:p.Ala247= | |
| NM_052874.5:c.759A>T MANE Select | NP_443106.1:p.Ala253= |