Linked Data
ClinVar Variation Id:
312420
ClinVar RCV Id:
RCV000294432
dbSNP Id:
rs886050314
gnomAD v2:
13-52603023-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52028887G>A , CM000675.2:g.52028887G>A | GRCh38 |
| NC_000013.10:g.52603023G>A , CM000675.1:g.52603023G>A | GRCh37 |
| NC_000013.9:g.51501024G>A | NCBI36 |
| NG_028038.1:g.21501G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521508.2:c.*297G>A (ALG11) MANE Select | ENSP00000430236.1:n.*297G>A | |
| ENST00000649340.2:c.*297G>A (ALG11) | ENSP00000497184.2:n.*297G>A | |
| ENST00000649651.2:n.6080G>A (ALG11) | ||
| ENST00000649708.2:c.275+9744G>A (ALG11) | ENSP00000497459.2:n.275+9744G>A | |
| ENST00000679359.1:c.*1528G>A (ALG11) | ENSP00000505579.1:n.*1528G>A | |
| ENST00000679495.1:n.44+16425G>A (ALG11) | ||
| ENST00000679544.1:c.*502G>A (ALG11) | ENSP00000505560.1:n.*502G>A | |
| ENST00000680058.1:n.1679G>A (ALG11) | ||
| ENST00000680793.1:n.2768G>A (ALG11) | ||
| ENST00000680950.1:n.1903G>A (ALG11) | ||
| ENST00000681047.1:c.*1501G>A (ALG11) | ENSP00000505034.1:n.*1501G>A | |
| ENST00000681053.1:c.*297G>A (ALG11) | ENSP00000505307.1:n.*297G>A | |
| ENST00000681145.1:c.*566G>A (ALG11) | ENSP00000505163.1:n.*566G>A | |
| ENST00000681226.1:n.964G>A (ALG11) | ||
| ENST00000521508.1:c.*297G>A (ALG11) | ENSP00000430236.1:n.*297G>A | |
| ENST00000521776.2:c.83G>A (UTP14C) MANE Select | ENSP00000428619.1:p.Ser28Asn | |
| ENST00000523764.1:c.*502G>A (ALG11) | ENSP00000429497.1:n.*502G>A | |
| NM_001004127.2:c.*297G>A (ALG11) | NP_001004127.2:n.*297G>A | |
| NM_021645.5:c.83G>A (UTP14C) | NP_067677.4:p.Ser28Asn | |
| NR_036571.2:n.645G>A (ALG11) | ||
| NM_001004127.3:c.*297G>A (ALG11) MANE Select | NP_001004127.2:n.*297G>A | |
| NM_021645.6:c.83G>A (UTP14C) MANE Select | NP_067677.4:p.Ser28Asn | |
| NR_036571.3:n.634G>A (ALG11) |