Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.110064541G>A , CM000663.2:g.110064541G>A | GRCh38 |
| NC_000001.10:g.110607163G>A , CM000663.1:g.110607163G>A | GRCh37 |
| NC_000001.9:g.110408686G>A | NCBI36 |
| NG_012039.1:g.11160C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647563.2:c.594+46C>T (ALX3) MANE Select | ENSP00000497310.1:n.594+46C>T | |
| ENST00000649954.1:c.165+46C>T (ALX3) | ENSP00000497035.1:n.165+46C>T | |
| ENST00000369792.4:c.594+46C>T (ALX3) | ENSP00000358807.3:n.594+46C>T | |
| ENST00000473429.5:n.4214-7914G>A (STRIP1) | ||
| NM_006492.2:c.594+46C>T (ALX3) | NP_006483.2:n.594+46C>T | |
| NM_006492.3:c.594+46C>T (ALX3) MANE Select | NP_006483.2:n.594+46C>T |