Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20859228G>T , CM000684.2:g.20859228G>T | GRCh38 |
| NC_000022.10:g.21213516G>T , CM000684.1:g.21213516G>T | GRCh37 |
| NC_000022.9:g.19543516G>T | NCBI36 |
| NG_012152.1:g.5225G>T | |
| NG_033052.1:g.4585C>A | |
| NG_033052.2:g.4585C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004782.4:c.118G>T (SNAP29) MANE Select | NP_004773.1:p.Asp40Tyr |
| ENST00000215730.12:c.118G>T (SNAP29) MANE Select | ENSP00000215730.6:p.Asp40Tyr |
| NM_004782.3:c.118G>T (SNAP29) | NP_004773.1:p.Asp40Tyr |
| ENST00000215730.11:c.118G>T (SNAP29) | ENSP00000215730.6:p.Asp40Tyr |
| ENST00000449120.1:c.-124C>A (PI4KA) | ENSP00000402437.1:n.-124C>A |
| ENST00000490458.1:n.148G>T (SNAP29) |