Linked Data
ClinVar Variation Id:
322921
dbSNP Id:
rs548531950
gnomAD v2:
17-3566247-C-T
gnomAD v3:
17-3662953-C-T
gnomAD v4:
17-3662953-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3662953C>T , CM000679.2:g.3662953C>T | GRCh38 |
| NC_000017.10:g.3566247C>T , CM000679.1:g.3566247C>T | GRCh37 |
| NC_000017.9:g.3512996C>T | NCBI36 |
| NG_012489.1:g.31486C>T | |
| NG_053154.1:g.10727G>A | |
| NG_012489.2:g.31486C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000046640.9:c.*2584C>T (CTNS) MANE Select | ENSP00000046640.4:n.*2584C>T | |
| ENST00000225525.4:c.*795G>A (TAX1BP3) MANE Select | ENSP00000225525.3:n.*795G>A | |
| ENST00000225525.3:c.*795G>A (TAX1BP3) | ENSP00000225525.3:n.*795G>A | |
| ENST00000611779.4:c.*795G>A (TAX1BP3) | ENSP00000484776.1:n.*795G>A | |
| NM_001031681.2:c.*2219C>T (CTNS) | NP_001026851.2:n.*2219C>T | |
| NM_001204698.1:c.*795G>A (TAX1BP3) | NP_001191627.1:n.*795G>A | |
| NM_004937.2:c.*2584C>T (CTNS) | NP_004928.2:n.*2584C>T | |
| NM_014604.3:c.*795G>A (TAX1BP3) | NP_055419.1:n.*795G>A | |
| NR_037928.1:n.6225G>A (P2RX5-TAX1BP3) | ||
| NM_014604.4:c.*795G>A (TAX1BP3) MANE Select | NP_055419.1:n.*795G>A | |
| NM_001374492.1:c.*2219C>T (CTNS) | NP_001361421.1:n.*2219C>T | |
| NM_001374493.1:c.*2584C>T (CTNS) | NP_001361422.1:n.*2584C>T | |
| NM_001374494.1:c.*2584C>T (CTNS) | NP_001361423.1:n.*2584C>T | |
| NM_001374495.1:c.*2584C>T (CTNS) | NP_001361424.1:n.*2584C>T | |
| NM_001374496.1:c.*2584C>T (CTNS) | NP_001361425.1:n.*2584C>T | |
| NM_004937.3:c.*2584C>T (CTNS) MANE Select | NP_004928.2:n.*2584C>T | |
| NM_001031681.3:c.*2219C>T (CTNS) | NP_001026851.2:n.*2219C>T | |
| NM_001204698.2:c.*795G>A (TAX1BP3) | NP_001191627.1:n.*795G>A |