Linked Data
MyVariant Identifiers:
chr21:g.37507670C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36135372C>T , CM000683.2:g.36135372C>T | GRCh38 |
| NC_000021.8:g.37507670C>T , CM000683.1:g.37507670C>T | GRCh37 |
| NC_000021.7:g.36429540C>T | NCBI36 |
| NG_052818.1:g.5472C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290354.6:c.180C>T (CBR3) MANE Select | ENSP00000290354.5:p.His60= | |
| ENST00000290354.5:c.180C>T (CBR3) | ENSP00000290354.5:p.His60= | |
| NM_001236.3:c.180C>T (CBR3) | NP_001227.1:p.His60= | |
| NR_038892.1:n.193-1611G>A (CBR3-AS1) | ||
| NR_038893.1:n.193-2298G>A (CBR3-AS1) | ||
| XM_011529772.1:c.180C>T (CBR3) | XP_011528074.1:p.His60= | |
| XM_011529772.2:c.180C>T (CBR3) | XP_011528074.1:p.His60= | |
| NM_001236.4:c.180C>T (CBR3) MANE Select | NP_001227.1:p.His60= |