Linked Data
ClinVar Variation Id:
3104676
ClinVar RCV Id:
RCV004401534
dbSNP Id:
rs2035799714
gnomAD v4:
15-90931719-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90931719G>T , CM000677.2:g.90931719G>T | GRCh38 |
| NC_000015.9:g.91474949G>T , CM000677.1:g.91474949G>T | GRCh37 |
| NC_000015.8:g.89275953G>T | NCBI36 |
| NG_061633.1:g.6540G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394272.8:c.394C>A (HDDC3) MANE Select | ENSP00000377814.4:p.Arg132Ser | |
| ENST00000394275.7:c.-760+1464G>T (UNC45A) | ENSP00000377816.2:n.-760+1464G>T | |
| ENST00000643068.1:n.3368C>A (HDDC3) | ||
| ENST00000646620.1:c.394C>A (HDDC3) | ENSP00000493549.1:p.Arg132Ser | |
| ENST00000672480.1:c.-65+1464G>T (UNC45A) | ENSP00000500786.1:n.-65+1464G>T | |
| ENST00000330334.7:c.394C>A (HDDC3) | ENSP00000330721.3:p.Arg132Ser | |
| ENST00000394272.7:c.394C>A (HDDC3) | ENSP00000377814.3:p.Arg132Ser | |
| ENST00000394275.6:c.-760+1464G>T (UNC45A) | ENSP00000377816.2:n.-760+1464G>T | |
| ENST00000461266.5:n.76+1464G>T (UNC45A) | ||
| ENST00000480470.5:n.176+667G>T (UNC45A) | ||
| ENST00000494993.1:n.724C>A (HDDC3) | ||
| ENST00000559834.1:n.806C>A (HDDC3) | ||
| ENST00000559898.5:c.394C>A (HDDC3) | ENSP00000454103.1:p.Arg132Ser | |
| ENST00000561036.1:c.373C>A (HDDC3) | ENSP00000452937.1:p.Arg125Ser | |
| NM_001039675.1:c.-760+1464G>T (UNC45A) | NP_001034764.1:n.-760+1464G>T | |
| NM_001286451.1:c.394C>A (HDDC3) | NP_001273380.1:p.Arg132Ser | |
| NM_198527.3:c.394C>A (HDDC3) | NP_940929.1:p.Arg132Ser | |
| NR_104447.1:n.466C>A (HDDC3) | ||
| XM_011521779.1:c.-760+1464G>T (UNC45A) | XP_011520081.1:n.-760+1464G>T | |
| NM_198527.4:c.394C>A (HDDC3) | NP_940929.1:p.Arg132Ser | |
| XM_024449983.1:c.-1343+1464G>T (UNC45A) | XP_024305751.1:n.-1343+1464G>T | |
| XM_024449984.1:c.-1737+1464G>T (UNC45A) | XP_024305752.1:n.-1737+1464G>T | |
| XM_024449985.1:c.-1692+1464G>T (UNC45A) | XP_024305753.1:n.-1692+1464G>T | |
| NM_001286451.2:c.394C>A (HDDC3) MANE Select | NP_001273380.1:p.Arg132Ser | |
| NR_104447.2:n.446C>A (HDDC3) | ||
| NM_001039675.2:c.-760+1464G>T (UNC45A) | NP_001034764.1:n.-760+1464G>T |