Linked Data
ClinVar Variation Id:
264711
ClinVar RCV Id:
RCV000254609
dbSNP Id:
rs886039242
PubMed:
PMID:27484837
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113491225G>A , CM000675.2:g.113491225G>A | GRCh38 |
| NC_000013.10:g.114145540G>A , CM000675.1:g.114145540G>A | GRCh37 |
| NC_000013.9:g.113193541G>A | NCBI36 |
| NG_053059.1:g.5233G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434316.7:c.-129G>A (TMCO3) MANE Select | ENSP00000389399.2:n.-129G>A | |
| ENST00000375391.5:c.-129G>A (TMCO3) | ENSP00000364540.1:n.-129G>A | |
| ENST00000434316.6:c.-129G>A (TMCO3) | ENSP00000389399.2:n.-129G>A | |
| ENST00000474393.5:c.-129G>A (TMCO3) | ENSP00000484053.1:n.-129G>A | |
| NM_017905.4:c.-129G>A (TMCO3) | NP_060375.4:n.-129G>A | |
| NM_001349741.1:c.-129G>A (TMCO3) | NP_001336670.1:n.-129G>A | |
| NM_001349742.1:c.-129G>A (TMCO3) | NP_001336671.1:n.-129G>A | |
| NM_001349743.1:c.-129G>A (TMCO3) | NP_001336672.1:n.-129G>A | |
| NM_001349744.1:c.-129G>A (TMCO3) | NP_001336673.1:n.-129G>A | |
| NM_001349745.1:c.-129G>A (TMCO3) | NP_001336674.1:n.-129G>A | |
| NM_001349746.1:c.-129G>A (TMCO3) | NP_001336675.1:n.-129G>A | |
| NM_017905.5:c.-129G>A (TMCO3) | NP_060375.4:n.-129G>A | |
| NR_146221.1:n.488G>A (TMCO3) | ||
| NR_146222.1:n.488G>A (TMCO3) | ||
| XM_011537501.2:c.-129G>A (TMCO3) | XP_011535803.1:n.-129G>A | |
| XM_011537502.3:c.-129G>A (TMCO3) | XP_011535804.1:n.-129G>A | |
| XM_011537504.2:c.-129G>A (TMCO3) | XP_011535806.1:n.-129G>A | |
| XM_011537506.2:c.-129G>A (TMCO3) | XP_011535808.1:n.-129G>A | |
| XM_011537507.2:c.-129G>A (TMCO3) | XP_011535809.1:n.-129G>A | |
| XM_011537509.2:c.-129G>A (TMCO3) | XP_011535811.1:n.-129G>A | |
| XM_017020630.1:c.-129G>A (TMCO3) | XP_016876119.1:n.-129G>A | |
| XM_017020634.2:c.-129G>A (TMCO3) | XP_016876123.1:n.-129G>A | |
| XM_017020636.1:c.-129G>A (TMCO3) | XP_016876125.1:n.-129G>A | |
| XM_017020647.1:c.-43+320C>T (DCUN1D2) | XP_016876136.1:n.-43+320C>T | |
| XM_024449370.1:c.-129G>A (TMCO3) | XP_024305138.1:n.-129G>A | |
| XR_001749587.2:n.183G>A (TMCO3) | ||
| XR_001749590.2:n.233G>A (TMCO3) | ||
| XR_002957454.1:n.233G>A (TMCO3) | ||
| XR_944279.3:n.233G>A (TMCO3) | ||
| NM_017905.6:c.-129G>A (TMCO3) MANE Select | NP_060375.4:n.-129G>A | |
| NM_001349741.2:c.-129G>A (TMCO3) | NP_001336670.1:n.-129G>A | |
| NM_001349742.2:c.-129G>A (TMCO3) | NP_001336671.1:n.-129G>A | |
| NM_001349743.2:c.-129G>A (TMCO3) | NP_001336672.1:n.-129G>A | |
| NM_001349744.2:c.-129G>A (TMCO3) | NP_001336673.1:n.-129G>A | |
| NM_001349745.2:c.-129G>A (TMCO3) | NP_001336674.1:n.-129G>A | |
| NM_001349746.2:c.-129G>A (TMCO3) | NP_001336675.1:n.-129G>A | |
| NR_146221.2:n.205G>A (TMCO3) | ||
| NR_146222.2:n.205G>A (TMCO3) |