Linked Data
dbSNP Id:
rs1036343086
gnomAD v4:
12-54000780-G-A
MyVariant Identifiers:
chr12:g.54000780G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.54000780G>A , CM000674.2:g.54000780G>A | GRCh38 |
| NC_000012.11:g.54394564G>A , CM000674.1:g.54394564G>A | GRCh37 |
| NC_000012.10:g.52680831G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303450.5:c.538+54G>A (HOXC9) MANE Select | ENSP00000302836.4:n.538+54G>A | |
| ENST00000303450.4:c.538+54G>A (HOXC9) | ENSP00000302836.4:n.538+54G>A | |
| ENST00000504315.1:c.-193+9966G>A (HOXC6) | ENSP00000424124.1:n.-193+9966G>A | |
| ENST00000504557.1:n.123-1650G>A (HOXC9) | ||
| ENST00000508190.1:c.538+54G>A (HOXC9) | ENSP00000423861.1:n.538+54G>A | |
| ENST00000509328.1:c.-73+5764G>A (HOXC6) | ENSP00000423898.1:n.-73+5764G>A | |
| ENST00000513209.1:c.166+14770G>A | ENSP00000476742.1:n.166+14770G>A | |
| NM_006897.1:c.538+54G>A (HOXC9) | NP_008828.1:n.538+54G>A | |
| NM_006897.2:c.538+54G>A (HOXC9) | NP_008828.1:n.538+54G>A | |
| NM_006897.3:c.538+54G>A (HOXC9) MANE Select | NP_008828.1:n.538+54G>A |