Linked Data
ClinVar Variation Id:
525272
ClinVar RCV Id:
RCV000629323
dbSNP Id:
rs1233811324
gnomAD v2:
6-43612952-C-A
gnomAD v4:
6-43645215-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43645215C>A , CM000668.2:g.43645215C>A | GRCh38 |
| NC_000006.11:g.43612952C>A , CM000668.1:g.43612952C>A | GRCh37 |
| NC_000006.10:g.43720930C>A | NCBI36 |
| NG_023436.1:g.5186C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372163.5:c.117C>A (RSPH9) MANE Select | ENSP00000361236.4:p.Tyr39Ter | |
| ENST00000372163.4:c.117C>A (RSPH9) | ENSP00000361236.4:p.Tyr39Ter | |
| ENST00000372165.8:c.117C>A (RSPH9) | ENSP00000361238.4:p.Tyr39Ter | |
| NM_001193341.1:c.117C>A (RSPH9) | NP_001180270.1:p.Tyr39Ter | |
| NM_152732.4:c.117C>A (RSPH9) | NP_689945.2:p.Tyr39Ter | |
| XM_005248901.2:c.117C>A (RSPH9) | XP_005248958.1:p.Tyr39Ter | |
| XM_006715014.1:c.117C>A (RSPH9) | XP_006715077.1:p.Tyr39Ter | |
| XM_011514356.1:c.117C>A (RSPH9) | XP_011512658.1:p.Tyr39Ter | |
| XR_926099.1:n.152C>A (RSPH9) | ||
| XM_005248901.3:c.117C>A (RSPH9) | XP_005248958.1:p.Tyr39Ter | |
| XR_002956268.1:n.159C>A (RSPH9) | ||
| XR_002956269.1:n.186C>A (RSPH9) | ||
| XR_926099.2:n.159C>A (RSPH9) | ||
| NM_152732.5:c.117C>A (RSPH9) MANE Select | NP_689945.2:p.Tyr39Ter | |
| NM_001193341.2:c.117C>A (RSPH9) | NP_001180270.1:p.Tyr39Ter | |
| NM_001318876.2:c.945+115944C>A (POLR1C) | NP_001305805.1:n.945+115944C>A |