Revel Score:
ENST00000392793 (MANE Select)
0.758
ENST00000264037
0.758
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121168867T>A , CM000673.2:g.121168867T>A | GRCh38 |
| NC_000011.9:g.121039576T>A , CM000673.1:g.121039576T>A | GRCh37 |
| NC_000011.8:g.120544786T>A | NCBI36 |
| NG_011633.1:g.71202T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.5941T>A (TECTA) MANE Select | ENSP00000376543.1:p.Tyr1981Asn | |
| ENST00000642222.1:c.5926T>A (TECTA) | ENSP00000493855.1:p.Tyr1976Asn | |
| ENST00000645008.1:c.3233T>A (TECTA) | ||
| ENST00000646278.1:n.2321T>A (TECTA) | ||
| ENST00000264037.2:c.5941T>A (TECTA) | ENSP00000264037.2:p.Tyr1981Asn | |
| ENST00000392793.5:c.5941T>A (TECTA) | ENSP00000376543.1:p.Tyr1981Asn | |
| NM_005422.2:c.5941T>A (TECTA) | NP_005413.2:p.Tyr1981Asn | |
| NM_001378761.1:c.6883T>A (TBCEL-TECTA) | NP_001365690.1:p.Tyr2295Asn | |
| NM_005422.4:c.5941T>A (TECTA) MANE Select | NP_005413.2:p.Tyr1981Asn |