Canonical Allele Identifier:
CA337625762
Community Standard Title: NC_000024.10:g.8722711C>T
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8722711C>T , CM000686.2:g.8722711C>T | GRCh38 |
| NC_000024.9:g.8590752C>T , CM000686.1:g.8590752C>T | GRCh37 |
| NC_000024.8:g.8650752C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000623558.1:c.196+384C>T | ENSP00000485446.1:n.196+384C>T |
| ENST00000624237.1:c.63+11759C>T | ENSP00000485137.1:n.63+11759C>T |
| ENST00000624593.1:c.-57+26005G>A | ENSP00000485106.1:n.-57+26005G>A |
| XR_938653.1:n.40-85G>A | |
| XR_938654.1:n.189-85G>A | |
| XR_938654.2:n.189-85G>A |