Linked Data
dbSNP Id:
rs747500159
gnomAD v3:
12-54000623-G-A
gnomAD v4:
12-54000623-G-A
MyVariant Identifiers:
chr12:g.54394407G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.54000623G>A , CM000674.2:g.54000623G>A | GRCh38 |
| NC_000012.11:g.54394407G>A , CM000674.1:g.54394407G>A | GRCh37 |
| NC_000012.10:g.52680674G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303450.5:c.435G>A (HOXC9) MANE Select | ENSP00000302836.4:p.Ser145= | |
| ENST00000303450.4:c.435G>A (HOXC9) | ENSP00000302836.4:p.Ser145= | |
| ENST00000504315.1:c.-193+9809G>A (HOXC6) | ENSP00000424124.1:n.-193+9809G>A | |
| ENST00000504557.1:n.123-1807G>A (HOXC9) | ||
| ENST00000508190.1:c.435G>A (HOXC9) | ENSP00000423861.1:p.Ser145= | |
| ENST00000509328.1:c.-73+5607G>A (HOXC6) | ENSP00000423898.1:n.-73+5607G>A | |
| ENST00000513209.1:c.166+14613G>A | ENSP00000476742.1:n.166+14613G>A | |
| NM_006897.1:c.435G>A (HOXC9) | NP_008828.1:p.Ser145= | |
| NM_006897.2:c.435G>A (HOXC9) | NP_008828.1:p.Ser145= | |
| NM_006897.3:c.435G>A (HOXC9) MANE Select | NP_008828.1:p.Ser145= |