Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21250587G>A , CM000678.2:g.21250587G>A | GRCh38 |
| NC_000016.9:g.21261908G>A , CM000678.1:g.21261908G>A | GRCh37 |
| NC_000016.8:g.21169409G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_145865.3:c.1021G>A (ANKS4B) MANE Select | NP_665872.2:p.Asp341Asn |
| ENST00000311620.7:c.1021G>A (ANKS4B) MANE Select | ENSP00000308772.5:p.Asp341Asn |
| NM_145865.2:c.1021G>A (ANKS4B) | NP_665872.2:p.Asp341Asn |
| ENST00000311620.6:c.1021G>A (ANKS4B) | ENSP00000308772.5:p.Asp341Asn |
| ENST00000570401.5:c.265-6519C>T (CRYM) | |
| ENST00000574448.5:c.*521-6519C>T (CRYM) | ENSP00000459982.1:n.*521-6519C>T |