Linked Data
ClinVar Variation Id:
208393
ClinVar RCV Id:
RCV000202347
dbSNP Id:
rs863223352
gnomAD v4:
17-81683794-C-A
PubMed:
PMID:26508570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81683794C>A , CM000679.2:g.81683794C>A | GRCh38 |
| NC_000017.10:g.79650824C>A , CM000679.1:g.79650824C>A | GRCh37 |
| NC_000017.9:g.77261229C>A | NCBI36 |
| NG_051248.1:g.5131G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622299.5:c.-41G>T (ARL16) MANE Select | ENSP00000483183.1:n.-41G>T | |
| ENST00000677161.1:c.-165+166C>A (HGS) | ENSP00000503695.1:n.-165+166C>A | |
| ENST00000397498.8:c.32G>T (ARL16) | ENSP00000380635.4:p.Arg11Leu | |
| ENST00000571518.5:c.-165+166C>A (HGS) | ENSP00000459685.1:n.-165+166C>A | |
| ENST00000621051.4:c.32G>T (ARL16) | ENSP00000480579.1:p.Arg11Leu | |
| NM_001040025.1:c.32G>T (ARL16) | NP_001035114.1:p.Arg11Leu | |
| XM_011524739.1:c.32G>T (ARL16) | XP_011523041.1:p.Arg11Leu | |
| NM_001040025.2:c.32G>T (ARL16) | NP_001035114.1:p.Arg11Leu | |
| NM_001329608.1:c.-708G>T (ARL16) | NP_001316537.1:n.-708G>T | |
| NR_138058.1:n.131G>T (ARL16) | ||
| NM_001040025.3:c.-41G>T (ARL16) MANE Select | NP_001035114.2:n.-41G>T | |
| NM_001329608.2:c.-708G>T (ARL16) | NP_001316537.1:n.-708G>T | |
| NR_138058.2:n.4G>T (ARL16) |