Linked Data
ClinVar Variation Id:
322922
dbSNP Id:
rs549150113
gnomAD v2:
17-3566256-A-T
gnomAD v3:
17-3662962-A-T
gnomAD v4:
17-3662962-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3662962A>T , CM000679.2:g.3662962A>T | GRCh38 |
| NC_000017.10:g.3566256A>T , CM000679.1:g.3566256A>T | GRCh37 |
| NC_000017.9:g.3513005A>T | NCBI36 |
| NG_012489.1:g.31495A>T | |
| NG_053154.1:g.10718T>A | |
| NG_012489.2:g.31495A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000046640.9:c.*2593A>T (CTNS) MANE Select | ENSP00000046640.4:n.*2593A>T | |
| ENST00000225525.4:c.*786T>A (TAX1BP3) MANE Select | ENSP00000225525.3:n.*786T>A | |
| ENST00000225525.3:c.*786T>A (TAX1BP3) | ENSP00000225525.3:n.*786T>A | |
| ENST00000611779.4:c.*786T>A (TAX1BP3) | ENSP00000484776.1:n.*786T>A | |
| NM_001031681.2:c.*2228A>T (CTNS) | NP_001026851.2:n.*2228A>T | |
| NM_001204698.1:c.*786T>A (TAX1BP3) | NP_001191627.1:n.*786T>A | |
| NM_004937.2:c.*2593A>T (CTNS) | NP_004928.2:n.*2593A>T | |
| NM_014604.3:c.*786T>A (TAX1BP3) | NP_055419.1:n.*786T>A | |
| NR_037928.1:n.6216T>A (P2RX5-TAX1BP3) | ||
| NM_014604.4:c.*786T>A (TAX1BP3) MANE Select | NP_055419.1:n.*786T>A | |
| NM_001374492.1:c.*2228A>T (CTNS) | NP_001361421.1:n.*2228A>T | |
| NM_001374493.1:c.*2593A>T (CTNS) | NP_001361422.1:n.*2593A>T | |
| NM_001374494.1:c.*2593A>T (CTNS) | NP_001361423.1:n.*2593A>T | |
| NM_001374495.1:c.*2593A>T (CTNS) | NP_001361424.1:n.*2593A>T | |
| NM_001374496.1:c.*2593A>T (CTNS) | NP_001361425.1:n.*2593A>T | |
| NM_004937.3:c.*2593A>T (CTNS) MANE Select | NP_004928.2:n.*2593A>T | |
| NM_001031681.3:c.*2228A>T (CTNS) | NP_001026851.2:n.*2228A>T | |
| NM_001204698.2:c.*786T>A (TAX1BP3) | NP_001191627.1:n.*786T>A |