Canonical Allele Identifier:
CA551530052
Community Standard Title: NC_000004.12:g.53933078T>G
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.53933078T>G , CM000666.2:g.53933078T>G | GRCh38 |
| NC_000004.11:g.54799245T>G , CM000666.1:g.54799245T>G | GRCh37 |
| NC_000004.10:g.54494002T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000507166.5:c.1018-341847T>G | ENSP00000423325.1:n.1018-341847T>G |