Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14711174C= , CM000667.2:g.14711174C= | GRCh38 |
| NC_000005.9:g.14711283C= , CM000667.1:g.14711283C= | GRCh37 |
| NC_000005.8:g.14764283C= | NCBI36 |
| NG_008273.1:g.165605G= | |
| NG_008273.2:g.165612G= | |
| NG_051625.1:g.55381C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.*23G= (ANKH) MANE Select | ENSP00000284268.6:n.*23G= | |
| ENST00000284268.6:c.*23G= (ANKH) | ENSP00000284268.6:n.*23G= | |
| ENST00000502585.1:n.744G= (ANKH) | ||
| NM_054027.4:c.*23G= (ANKH) | NP_473368.1:n.*23G= | |
| XM_011514151.1:c.*47-1548C= (OTULIN) | XP_011512453.1:n.*47-1548C= | |
| NM_054027.5:c.*23G= (ANKH) | NP_473368.1:n.*23G= | |
| XM_011514151.2:c.*47-1548C= (OTULIN) | XP_011512453.1:n.*47-1548C= | |
| XM_017009644.2:c.*23G= (ANKH) | XP_016865133.1:n.*23G= | |
| NM_054027.6:c.*23G= (ANKH) MANE Select | NP_473368.1:n.*23G= |