Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14712935G>A , CM000667.2:g.14712935G>A | GRCh38 |
| NC_000005.9:g.14713044G>A , CM000667.1:g.14713044G>A | GRCh37 |
| NC_000005.8:g.14766044G>A | NCBI36 |
| NG_008273.1:g.163844C>T | |
| NG_008273.2:g.163851C>T | |
| NG_051625.1:g.57142G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_054027.6:c.1304C>T (ANKH) MANE Select | NP_473368.1:p.Ala435Val |
| ENST00000284268.8:c.1304C>T (ANKH) MANE Select | ENSP00000284268.6:p.Ala435Val |
| NM_054027.4:c.1304C>T (ANKH) | NP_473368.1:p.Ala435Val |
| NM_054027.5:c.1304C>T (ANKH) | NP_473368.1:p.Ala435Val |
| NR_046285.1:n.242G>A | |
| ENST00000284268.6:c.1304C>T (ANKH) | ENSP00000284268.6:p.Ala435Val |
| ENST00000502585.1:n.546C>T (ANKH) | |
| XM_011514151.2:c.*260G>A (OTULIN) | XP_011512453.1:n.*260G>A |
| XM_017009644.2:c.1220C>T (ANKH) | XP_016865133.1:p.Ala407Val |