Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14709444G>A , CM000667.2:g.14709444G>A | GRCh38 |
| NC_000005.9:g.14709553G>A , CM000667.1:g.14709553G>A | GRCh37 |
| NC_000005.8:g.14762553G>A | NCBI36 |
| NG_008273.1:g.167335C>T | |
| NG_008273.2:g.167342C>T | |
| NG_051625.1:g.53651G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_054027.6:c.*1753C>T (ANKH) MANE Select | NP_473368.1:n.*1753C>T |
| ENST00000284268.8:c.*1753C>T (ANKH) MANE Select | ENSP00000284268.6:n.*1753C>T |
| NM_054027.4:c.*1753C>T (ANKH) | NP_473368.1:n.*1753C>T |
| NM_054027.5:c.*1753C>T (ANKH) | NP_473368.1:n.*1753C>T |
| ENST00000284268.6:c.*1753C>T (ANKH) | ENSP00000284268.6:n.*1753C>T |
| XM_011514151.1:c.*47-3278G>A (OTULIN) | XP_011512453.1:n.*47-3278G>A |
| XM_011514151.2:c.*47-3278G>A (OTULIN) | XP_011512453.1:n.*47-3278G>A |