Linked Data
ClinVar Variation Id:
1615534
ClinVar RCV Id:
RCV002081536
dbSNP Id:
rs149227921
ExAC:
17:38978709 A / G
gnomAD v2:
17-38978709-A-G
gnomAD v3:
17-40822457-A-G
gnomAD v4:
17-40822457-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40822457A>G , CM000679.2:g.40822457A>G | GRCh38 |
| NC_000017.10:g.38978709A>G , CM000679.1:g.38978709A>G | GRCh37 |
| NC_000017.9:g.36232235A>G | NCBI36 |
| NG_008405.1:g.5155T>C | |
| NG_033147.1:g.8366A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269576.6:c.129T>C (KRT10) MANE Select | ENSP00000269576.5:p.Leu43= | |
| ENST00000635956.2:c.129T>C (KRT10) | ENSP00000490524.2:p.Leu43= | |
| ENST00000269576.5:c.129T>C (KRT10) | ENSP00000269576.5:p.Leu43= | |
| ENST00000301665.7:c.-221+3249A>G (KRT10-AS1) | ENSP00000301665.3:n.-221+3249A>G | |
| ENST00000436612.5:c.-221+3287A>G (KRT10-AS1) | ENSP00000390036.1:n.-221+3287A>G | |
| ENST00000496847.1:n.49+3249A>G (KRT10-AS1) | ||
| ENST00000622451.1:c.-221+3178A>G (KRT10-AS1) | ENSP00000482364.1:n.-221+3178A>G | |
| NM_000421.3:c.129T>C (KRT10) | NP_000412.3:p.Leu43= | |
| NM_001195386.1:c.-221+3178A>G (KRT10-AS1) | NP_001182315.1:n.-221+3178A>G | |
| NM_001195387.1:c.-221+3287A>G (KRT10-AS1) | NP_001182316.1:n.-221+3287A>G | |
| NM_145274.3:c.-221+3249A>G (KRT10-AS1) | NP_660317.2:n.-221+3249A>G | |
| XM_005257343.2:c.129T>C (KRT10) | XP_005257400.1:p.Leu43= | |
| XM_005257089.4:c.-461+3249A>G (KRT10-AS1) | XP_005257146.1:n.-461+3249A>G | |
| XM_005257343.3:c.129T>C (KRT10) | XP_005257400.1:p.Leu43= | |
| XM_017024253.1:c.-414+3249A>G (KRT10-AS1) | XP_016879742.1:n.-414+3249A>G | |
| NM_000421.4:c.129T>C (KRT10) | NP_000412.3:p.Leu43= | |
| NR_160886.1:n.95+3178A>G (KRT10-AS1) | ||
| NR_160887.1:n.26+3287A>G (KRT10-AS1) | ||
| NR_160888.1:n.64+3249A>G (KRT10-AS1) | ||
| NM_000421.5:c.129T>C (KRT10) MANE Select | NP_000412.4:p.Leu43= | |
| NM_001379366.1:c.129T>C (KRT10) | NP_001366295.1:p.Leu43= |