Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14713637A>G , CM000667.2:g.14713637A>G | GRCh38 |
| NC_000005.9:g.14713746A>G , CM000667.1:g.14713746A>G | GRCh37 |
| NC_000005.8:g.14766746A>G | NCBI36 |
| NG_008273.1:g.163142T>C | |
| NG_008273.2:g.163149T>C | |
| NG_051625.1:g.57844A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_054027.6:c.1172T>C (ANKH) MANE Select | NP_473368.1:p.Leu391Pro |
| ENST00000284268.8:c.1172T>C (ANKH) MANE Select | ENSP00000284268.6:p.Leu391Pro |
| NM_054027.4:c.1172T>C (ANKH) | NP_473368.1:p.Leu391Pro |
| NM_054027.5:c.1172T>C (ANKH) | NP_473368.1:p.Leu391Pro |
| NR_046285.1:n.944A>G | |
| ENST00000284268.6:c.1172T>C (ANKH) | ENSP00000284268.6:p.Leu391Pro |
| ENST00000502585.1:n.414T>C (ANKH) | |
| XM_011514151.2:c.*962A>G (OTULIN) | XP_011512453.1:n.*962A>G |
| XM_017009644.2:c.1088T>C (ANKH) | XP_016865133.1:p.Leu363Pro |