Canonical Allele Identifier:
CA2838357013
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11511052A>T , CM000678.2:g.11511052A>T | GRCh38 |
| NC_000016.9:g.11604908A>T , CM000678.1:g.11604908A>T | GRCh37 |
| NC_000016.8:g.11512409A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696174.1:c.836-2197T>A | ENSP00000512464.1:n.836-2197T>A | |
| ENST00000598234.6:c.836-2197T>A | ENSP00000470478.3:n.836-2197T>A | |
| ENST00000598234.5:c.731-2197T>A | ENSP00000470478.2:n.731-2197T>A | |
| XM_006720997.2:c.731-2197T>A | XP_006721060.2:n.731-2197T>A | |
| XM_017023929.1:c.731-2197T>A | XP_016879418.1:n.731-2197T>A | |
| XM_017023930.1:c.731-2197T>A | XP_016879419.1:n.731-2197T>A | |
| XM_017023931.1:c.731-2197T>A | XP_016879420.1:n.731-2197T>A | |
| XM_017023932.1:c.731-2197T>A | XP_016879421.1:n.731-2197T>A | |
| XM_017023933.1:c.731-2197T>A | XP_016879422.1:n.731-2197T>A | |
| XM_017023934.1:c.731-2197T>A | XP_016879423.1:n.731-2197T>A | |
| XM_017023935.1:c.731-2197T>A | XP_016879424.1:n.731-2197T>A | |
| XM_017023936.1:c.731-2197T>A | XP_016879425.1:n.731-2197T>A | |
| XM_017023937.1:c.731-2197T>A | XP_016879426.1:n.731-2197T>A | |
| XM_017023938.1:c.731-2197T>A | XP_016879427.1:n.731-2197T>A | |
| XM_017023939.1:c.731-2197T>A | XP_016879428.1:n.731-2197T>A | |
| XM_017023942.1:c.731-2197T>A | XP_016879431.1:n.731-2197T>A | |
| XM_017023944.1:c.731-2197T>A | XP_016879433.1:n.731-2197T>A | |
| XM_017023945.1:c.731-2197T>A | XP_016879434.1:n.731-2197T>A | |
| XM_017023948.1:c.731-2197T>A | XP_016879437.1:n.731-2197T>A | |
| XM_017023949.1:c.731-2197T>A | XP_016879438.1:n.731-2197T>A | |
| XR_001752082.1:n.1121-2197T>A | ||
| XR_001752083.1:n.1121-2197T>A | ||
| NM_001370704.1:c.836-2197T>A | NP_001357633.1:n.836-2197T>A | |
| NM_001395505.1:c.836-2197T>A | NP_001382434.1:n.836-2197T>A |