Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14713644C>A , CM000667.2:g.14713644C>A | GRCh38 |
| NC_000005.9:g.14713753C>A , CM000667.1:g.14713753C>A | GRCh37 |
| NC_000005.8:g.14766753C>A | NCBI36 |
| NG_008273.1:g.163135G>T | |
| NG_008273.2:g.163142G>T | |
| NG_051625.1:g.57851C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_054027.6:c.1165G>T (ANKH) MANE Select | NP_473368.1:p.Gly389Trp |
| ENST00000284268.8:c.1165G>T (ANKH) MANE Select | ENSP00000284268.6:p.Gly389Trp |
| NM_054027.4:c.1165G>T (ANKH) | NP_473368.1:p.Gly389Trp |
| NM_054027.5:c.1165G>T (ANKH) | NP_473368.1:p.Gly389Trp |
| NR_046285.1:n.951C>A | |
| ENST00000284268.6:c.1165G>T (ANKH) | ENSP00000284268.6:p.Gly389Trp |
| ENST00000502585.1:n.407G>T (ANKH) | |
| XM_011514151.2:c.*969C>A (OTULIN) | XP_011512453.1:n.*969C>A |
| XM_017009644.2:c.1081G>T (ANKH) | XP_016865133.1:p.Gly361Trp |