Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219213495G>A , CM000664.2:g.219213495G>A | GRCh38 |
| NC_000002.11:g.220078217G>A , CM000664.1:g.220078217G>A | GRCh37 |
| NC_000002.10:g.219786461G>A | NCBI36 |
| NG_032110.1:g.10496C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265316.9:c.1663C>T (ABCB6) MANE Select | ENSP00000265316.3:p.Gln555Ter | |
| ENST00000295750.5:c.1525C>T (ABCB6) | ENSP00000295750.5:p.Gln509Ter | |
| ENST00000265316.7:c.1663C>T (ABCB6) | ENSP00000265316.3:p.Gln555Ter | |
| ENST00000295750.4:c.1206C>T (ABCB6) | ||
| ENST00000446716.5:c.4388C>T (ATG9A) | ||
| ENST00000448398.5:c.739C>T (ABCB6) | ||
| ENST00000497882.5:n.1976C>T (ABCB6) | ||
| NM_005689.2:c.1663C>T (ABCB6) | NP_005680.1:p.Gln555Ter | |
| NM_001349828.1:c.1525C>T (ABCB6) | NP_001336757.1:p.Gln509Ter | |
| NM_005689.3:c.1663C>T (ABCB6) | NP_005680.1:p.Gln555Ter | |
| NM_005689.4:c.1663C>T (ABCB6) MANE Select | NP_005680.1:p.Gln555Ter | |
| NM_001349828.2:c.1525C>T (ABCB6) | NP_001336757.1:p.Gln509Ter |