Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14712882G>A , CM000667.2:g.14712882G>A | GRCh38 |
| NC_000005.9:g.14712991G>A , CM000667.1:g.14712991G>A | GRCh37 |
| NC_000005.8:g.14765991G>A | NCBI36 |
| NG_008273.1:g.163897C>T | |
| NG_008273.2:g.163904C>T | |
| NG_051625.1:g.57089G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_054027.6:c.1357C>T (ANKH) MANE Select | NP_473368.1:p.Arg453Trp |
| ENST00000284268.8:c.1357C>T (ANKH) MANE Select | ENSP00000284268.6:p.Arg453Trp |
| NM_054027.4:c.1357C>T (ANKH) | NP_473368.1:p.Arg453Trp |
| NM_054027.5:c.1357C>T (ANKH) | NP_473368.1:p.Arg453Trp |
| NR_046285.1:n.189G>A | |
| ENST00000284268.6:c.1357C>T (ANKH) | ENSP00000284268.6:p.Arg453Trp |
| ENST00000502585.1:n.599C>T (ANKH) | |
| XM_011514151.2:c.*207G>A (OTULIN) | XP_011512453.1:n.*207G>A |
| XM_017009644.2:c.1273C>T (ANKH) | XP_016865133.1:p.Arg425Trp |