Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121128054G>A , CM000673.2:g.121128054G>A | GRCh38 |
| NC_000011.9:g.120998763G>A , CM000673.1:g.120998763G>A | GRCh37 |
| NC_000011.8:g.120503973G>A | NCBI36 |
| NG_011633.1:g.30389G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.2077G>A (TECTA) MANE Select | ENSP00000376543.1:p.Gly693Arg | |
| ENST00000642222.1:c.2077G>A (TECTA) | ENSP00000493855.1:p.Gly693Arg | |
| ENST00000264037.2:c.2077G>A (TECTA) | ENSP00000264037.2:p.Gly693Arg | |
| ENST00000392793.5:c.2077G>A (TECTA) | ENSP00000376543.1:p.Gly693Arg | |
| NM_005422.2:c.2077G>A (TECTA) | NP_005413.2:p.Gly693Arg | |
| NM_001378761.1:c.3034G>A (TBCEL-TECTA) | NP_001365690.1:p.Gly1012Arg | |
| NM_005422.4:c.2077G>A (TECTA) MANE Select | NP_005413.2:p.Gly693Arg |