Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14713550T>C , CM000667.2:g.14713550T>C | GRCh38 |
| NC_000005.9:g.14713659T>C , CM000667.1:g.14713659T>C | GRCh37 |
| NC_000005.8:g.14766659T>C | NCBI36 |
| NG_008273.1:g.163229A>G | |
| NG_008273.2:g.163236A>G | |
| NG_051625.1:g.57757T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1259A>G (ANKH) MANE Select | ENSP00000284268.6:p.Tyr420Cys | |
| ENST00000284268.6:c.1259A>G (ANKH) | ENSP00000284268.6:p.Tyr420Cys | |
| ENST00000502585.1:n.501A>G (ANKH) | ||
| NM_054027.4:c.1259A>G (ANKH) | NP_473368.1:p.Tyr420Cys | |
| NR_046285.1:n.857T>C | ||
| NM_054027.5:c.1259A>G (ANKH) | NP_473368.1:p.Tyr420Cys | |
| XM_011514151.2:c.*875T>C (OTULIN) | XP_011512453.1:n.*875T>C | |
| XM_017009644.2:c.1175A>G (ANKH) | XP_016865133.1:p.Tyr392Cys | |
| NM_054027.6:c.1259A>G (ANKH) MANE Select | NP_473368.1:p.Tyr420Cys |