Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.110061017G>C , CM000663.2:g.110061017G>C | GRCh38 |
| NC_000001.10:g.110603639G>C , CM000663.1:g.110603639G>C | GRCh37 |
| NC_000001.9:g.110405162G>C | NCBI36 |
| NG_012039.1:g.14684C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647563.2:c.748C>G (ALX3) MANE Select | ENSP00000497310.1:p.Pro250Ala | |
| ENST00000649954.1:c.319C>G (ALX3) | ENSP00000497035.1:p.Pro107Ala | |
| ENST00000369792.4:c.748C>G (ALX3) | ENSP00000358807.3:p.Pro250Ala | |
| ENST00000473429.5:n.4213+6215G>C (STRIP1) | ||
| NM_006492.2:c.748C>G (ALX3) | NP_006483.2:p.Pro250Ala | |
| NM_006492.3:c.748C>G (ALX3) MANE Select | NP_006483.2:p.Pro250Ala |