Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14711178G= , CM000667.2:g.14711178G= | GRCh38 |
| NC_000005.9:g.14711287G= , CM000667.1:g.14711287G= | GRCh37 |
| NC_000005.8:g.14764287G= | NCBI36 |
| NG_008273.1:g.165601C= | |
| NG_008273.2:g.165608C= | |
| NG_051625.1:g.55385G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.*19C= (ANKH) MANE Select | ENSP00000284268.6:n.*19C= | |
| ENST00000284268.6:c.*19C= (ANKH) | ENSP00000284268.6:n.*19C= | |
| ENST00000502585.1:n.740C= (ANKH) | ||
| NM_054027.4:c.*19C= (ANKH) | NP_473368.1:n.*19C= | |
| XM_011514151.1:c.*47-1544G= (OTULIN) | XP_011512453.1:n.*47-1544G= | |
| NM_054027.5:c.*19C= (ANKH) | NP_473368.1:n.*19C= | |
| XM_011514151.2:c.*47-1544G= (OTULIN) | XP_011512453.1:n.*47-1544G= | |
| XM_017009644.2:c.*19C= (ANKH) | XP_016865133.1:n.*19C= | |
| NM_054027.6:c.*19C= (ANKH) MANE Select | NP_473368.1:n.*19C= |