Linked Data
ClinVar Variation Id:
2592507
ClinVar RCV Id:
RCV004337408
dbSNP Id:
rs758310136
ExAC:
22:50686509 G / T
gnomAD v2:
22-50686509-G-T
gnomAD v3:
22-50248080-G-T
gnomAD v4:
22-50248080-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50248080G>T , CM000684.2:g.50248080G>T | GRCh38 |
| NC_000022.10:g.50686509G>T , CM000684.1:g.50686509G>T | GRCh37 |
| NC_000022.9:g.49028636G>T | NCBI36 |
| NG_029758.1:g.8326C>A | |
| NG_032160.1:g.1892C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216271.10:c.1147C>A (HDAC10) MANE Select | ENSP00000216271.5:p.Pro383Thr | |
| ENST00000216271.9:c.1147C>A (HDAC10) | ENSP00000216271.5:p.Pro383Thr | |
| ENST00000349505.4:c.1087C>A (HDAC10) | ENSP00000343540.4:p.Pro363Thr | |
| ENST00000415993.5:c.*668C>A (HDAC10) | ENSP00000397517.1:n.*668C>A | |
| ENST00000429374.5:c.*416C>A (HDAC10) | ENSP00000407640.1:n.*416C>A | |
| ENST00000448072.5:c.997C>A (HDAC10) | ENSP00000397542.1:p.Pro333Thr | |
| ENST00000454936.5:c.997C>A (HDAC10) | ENSP00000406150.1:p.Pro333Thr | |
| ENST00000470378.1:n.862C>A (HDAC10) | ||
| ENST00000471375.5:n.541C>A (HDAC10) | ||
| ENST00000475965.1:n.297C>A (HDAC10) | ||
| ENST00000476310.5:n.576C>A (HDAC10) | ||
| ENST00000477814.5:n.782C>A (HDAC10) | ||
| ENST00000483222.5:n.1163C>A (HDAC10) | ||
| ENST00000496235.5:n.214C>A (HDAC10) | ||
| ENST00000497036.5:n.5419C>A (MAPK12) | ||
| ENST00000498366.5:n.1225C>A (HDAC10) | ||
| ENST00000626012.2:c.*759C>A (HDAC10) | ENSP00000486864.1:n.*759C>A | |
| NM_001159286.1:c.1087C>A (HDAC10) | NP_001152758.1:p.Pro363Thr | |
| NM_032019.5:c.1147C>A (HDAC10) | NP_114408.3:p.Pro383Thr | |
| NM_032019.6:c.1147C>A (HDAC10) MANE Select | NP_114408.3:p.Pro383Thr | |
| NM_001159286.2:c.1087C>A (HDAC10) | NP_001152758.1:p.Pro363Thr |