Linked Data
dbSNP Id:
rs117575113
ExAC:
17:3568067 C / T
gnomAD v2:
17-3568067-C-T
gnomAD v3:
17-3664773-C-T
gnomAD v4:
17-3664773-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3664773C>T , CM000679.2:g.3664773C>T | GRCh38 |
| NC_000017.10:g.3568067C>T , CM000679.1:g.3568067C>T | GRCh37 |
| NC_000017.9:g.3514816C>T | NCBI36 |
| NG_012489.1:g.33306C>T | |
| NG_053154.1:g.8907G>A | |
| NG_012489.2:g.33306C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225525.4:c.65G>A (TAX1BP3) MANE Select | ENSP00000225525.3:p.Arg22His | |
| ENST00000225525.3:c.65G>A (TAX1BP3) | ENSP00000225525.3:p.Arg22His | |
| ENST00000550383.1:c.*3422G>A (P2RX5-TAX1BP3) | ENSP00000455681.1:n.*3422G>A | |
| ENST00000611779.4:c.65G>A (TAX1BP3) | ENSP00000484776.1:p.Arg22His | |
| NM_001204698.1:c.65G>A (TAX1BP3) | NP_001191627.1:p.Arg22His | |
| NM_014604.3:c.65G>A (TAX1BP3) | NP_055419.1:p.Arg22His | |
| NR_037928.1:n.5120G>A (P2RX5-TAX1BP3) | ||
| NM_014604.4:c.65G>A (TAX1BP3) MANE Select | NP_055419.1:p.Arg22His | |
| NM_001204698.2:c.65G>A (TAX1BP3) | NP_001191627.1:p.Arg22His |