Linked Data
ClinVar Variation Id:
14582
ClinVar RCV Id:
RCV000015683
dbSNP Id:
rs587776816
PubMed:
PMID:20798280
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40819516C>T , CM000679.2:g.40819516C>T | GRCh38 |
| NC_000017.10:g.38975768C>T , CM000679.1:g.38975768C>T | GRCh37 |
| NC_000017.9:g.36229294C>T | NCBI36 |
| NG_008405.1:g.8096G>A | |
| NG_033147.1:g.5425C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269576.6:c.1373+1G>A (KRT10) MANE Select | ENSP00000269576.5:n.1373+1G>A | |
| ENST00000635956.2:c.1373+1G>A (KRT10) | ENSP00000490524.2:n.1373+1G>A | |
| ENST00000269576.5:c.1373+1G>A (KRT10) | ENSP00000269576.5:n.1373+1G>A | |
| ENST00000301665.7:c.-221+308C>T (KRT10-AS1) | ENSP00000301665.3:n.-221+308C>T | |
| ENST00000436612.5:c.-221+346C>T (KRT10-AS1) | ENSP00000390036.1:n.-221+346C>T | |
| ENST00000496847.1:n.49+308C>T (KRT10-AS1) | ||
| ENST00000622451.1:c.-221+237C>T (KRT10-AS1) | ENSP00000482364.1:n.-221+237C>T | |
| NM_000421.3:c.1373+1G>A (KRT10) | NP_000412.3:n.1373+1G>A | |
| NM_001195386.1:c.-221+237C>T (KRT10-AS1) | NP_001182315.1:n.-221+237C>T | |
| NM_001195387.1:c.-221+346C>T (KRT10-AS1) | NP_001182316.1:n.-221+346C>T | |
| NM_145274.3:c.-221+308C>T (KRT10-AS1) | NP_660317.2:n.-221+308C>T | |
| XM_005257343.2:c.1373+1G>A (KRT10) | XP_005257400.1:n.1373+1G>A | |
| XM_005257089.4:c.-461+308C>T (KRT10-AS1) | XP_005257146.1:n.-461+308C>T | |
| XM_005257343.3:c.1373+1G>A (KRT10) | XP_005257400.1:n.1373+1G>A | |
| XM_017024253.1:c.-414+308C>T (KRT10-AS1) | XP_016879742.1:n.-414+308C>T | |
| NM_000421.4:c.1373+1G>A (KRT10) | NP_000412.3:n.1373+1G>A | |
| NR_160886.1:n.95+237C>T (KRT10-AS1) | ||
| NR_160887.1:n.26+346C>T (KRT10-AS1) | ||
| NR_160888.1:n.64+308C>T (KRT10-AS1) | ||
| NM_000421.5:c.1373+1G>A (KRT10) MANE Select | NP_000412.4:n.1373+1G>A | |
| NM_001379366.1:c.1373+1G>A (KRT10) | NP_001366295.1:n.1373+1G>A |