Linked Data
ClinVar Variation Id:
66171
dbSNP Id:
rs77919366
ExAC:
17:38978462 C / T
gnomAD v2:
17-38978462-C-T
gnomAD v3:
17-40822210-C-T
gnomAD v4:
17-40822210-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40822210C>T , CM000679.2:g.40822210C>T | GRCh38 |
| NC_000017.10:g.38978462C>T , CM000679.1:g.38978462C>T | GRCh37 |
| NC_000017.9:g.36231988C>T | NCBI36 |
| NG_008405.1:g.5402G>A | |
| NG_033147.1:g.8119C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269576.6:c.376G>A (KRT10) MANE Select | ENSP00000269576.5:p.Gly126Ser | |
| ENST00000635956.2:c.376G>A (KRT10) | ENSP00000490524.2:p.Gly126Ser | |
| ENST00000269576.5:c.376G>A (KRT10) | ENSP00000269576.5:p.Gly126Ser | |
| ENST00000301665.7:c.-221+3002C>T (KRT10-AS1) | ENSP00000301665.3:n.-221+3002C>T | |
| ENST00000436612.5:c.-221+3040C>T (KRT10-AS1) | ENSP00000390036.1:n.-221+3040C>T | |
| ENST00000496847.1:n.49+3002C>T (KRT10-AS1) | ||
| ENST00000622451.1:c.-221+2931C>T (KRT10-AS1) | ENSP00000482364.1:n.-221+2931C>T | |
| NM_000421.3:c.376G>A (KRT10) | NP_000412.3:p.Gly126Ser | |
| NM_001195386.1:c.-221+2931C>T (KRT10-AS1) | NP_001182315.1:n.-221+2931C>T | |
| NM_001195387.1:c.-221+3040C>T (KRT10-AS1) | NP_001182316.1:n.-221+3040C>T | |
| NM_145274.3:c.-221+3002C>T (KRT10-AS1) | NP_660317.2:n.-221+3002C>T | |
| XM_005257343.2:c.376G>A (KRT10) | XP_005257400.1:p.Gly126Ser | |
| XM_005257089.4:c.-461+3002C>T (KRT10-AS1) | XP_005257146.1:n.-461+3002C>T | |
| XM_005257343.3:c.376G>A (KRT10) | XP_005257400.1:p.Gly126Ser | |
| XM_017024253.1:c.-414+3002C>T (KRT10-AS1) | XP_016879742.1:n.-414+3002C>T | |
| NM_000421.4:c.376G>A (KRT10) | NP_000412.3:p.Gly126Ser | |
| NR_160886.1:n.95+2931C>T (KRT10-AS1) | ||
| NR_160887.1:n.26+3040C>T (KRT10-AS1) | ||
| NR_160888.1:n.64+3002C>T (KRT10-AS1) | ||
| NM_000421.5:c.376G>A (KRT10) MANE Select | NP_000412.4:p.Gly126Ser | |
| NM_001379366.1:c.376G>A (KRT10) | NP_001366295.1:p.Gly126Ser |