Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.110064601C>G , CM000663.2:g.110064601C>G | GRCh38 |
| NC_000001.10:g.110607223C>G , CM000663.1:g.110607223C>G | GRCh37 |
| NC_000001.9:g.110408746C>G | NCBI36 |
| NG_012039.1:g.11100G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647563.2:c.580G>C (ALX3) MANE Select | ENSP00000497310.1:p.Glu194Gln | |
| ENST00000649954.1:c.151G>C (ALX3) | ENSP00000497035.1:p.Glu51Gln | |
| ENST00000369792.4:c.580G>C (ALX3) | ENSP00000358807.3:p.Glu194Gln | |
| ENST00000473429.5:n.4214-7854C>G (STRIP1) | ||
| NM_006492.2:c.580G>C (ALX3) | NP_006483.2:p.Glu194Gln | |
| NM_006492.3:c.580G>C (ALX3) MANE Select | NP_006483.2:p.Glu194Gln |