Revel Score:
ENST00000535119
0.878
ENST00000284268 (MANE Select)
0.878
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14713644C>G , CM000667.2:g.14713644C>G | GRCh38 |
| NC_000005.9:g.14713753C>G , CM000667.1:g.14713753C>G | GRCh37 |
| NC_000005.8:g.14766753C>G | NCBI36 |
| NG_008273.1:g.163135G>C | |
| NG_008273.2:g.163142G>C | |
| NG_051625.1:g.57851C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1165G>C (ANKH) MANE Select | ENSP00000284268.6:p.Gly389Arg | |
| ENST00000284268.6:c.1165G>C (ANKH) | ENSP00000284268.6:p.Gly389Arg | |
| ENST00000502585.1:n.407G>C (ANKH) | ||
| NM_054027.4:c.1165G>C (ANKH) | NP_473368.1:p.Gly389Arg | |
| NR_046285.1:n.951C>G | ||
| NM_054027.5:c.1165G>C (ANKH) | NP_473368.1:p.Gly389Arg | |
| XM_011514151.2:c.*969C>G (OTULIN) | XP_011512453.1:n.*969C>G | |
| XM_017009644.2:c.1081G>C (ANKH) | XP_016865133.1:p.Gly361Arg | |
| NM_054027.6:c.1165G>C (ANKH) MANE Select | NP_473368.1:p.Gly389Arg |