Linked Data
ClinVar Variation Id:
1047475
ClinVar RCV Id:
RCV001352191
dbSNP Id:
rs753195443
gnomAD v2:
1-95530519-G-A
gnomAD v4:
1-95064963-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.95064963G>A , CM000663.2:g.95064963G>A | GRCh38 |
| NC_000001.10:g.95530519G>A , CM000663.1:g.95530519G>A | GRCh37 |
| NC_000001.9:g.95303107G>A | NCBI36 |
| NG_042044.1:g.12989C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370205.6:c.191C>T (ALG14) MANE Select | ENSP00000359224.4:p.Ser64Leu | |
| ENST00000370205.5:c.191C>T (ALG14) | ENSP00000359224.4:p.Ser64Leu | |
| ENST00000495856.1:n.167C>T (ALG14) | ||
| NM_001305242.1:c.191C>T (ALG14) | NP_001292171.1:p.Ser64Leu | |
| NM_144988.3:c.191C>T (ALG14) | NP_659425.1:p.Ser64Leu | |
| NR_131032.1:n.189+7800C>T (ALG14) | ||
| NR_132786.1:n.595-2081G>A (ALG14-AS1) | ||
| XM_005270582.2:c.191C>T (ALG14) | XP_005270639.1:p.Ser64Leu | |
| XM_011540897.1:c.191C>T (ALG14) | XP_011539199.1:p.Ser64Leu | |
| XR_946568.1:n.256C>T (ALG14) | ||
| XM_005270582.4:c.191C>T (ALG14) | XP_005270639.1:p.Ser64Leu | |
| XM_011540897.2:c.191C>T (ALG14) | XP_011539199.1:p.Ser64Leu | |
| XR_001737024.1:n.267C>T (ALG14) | ||
| XR_001737025.1:n.267C>T (ALG14) | ||
| XR_946568.3:n.266C>T (ALG14) | ||
| NM_144988.4:c.191C>T (ALG14) MANE Select | NP_659425.1:p.Ser64Leu | |
| NM_001305242.2:c.191C>T (ALG14) | NP_001292171.1:p.Ser64Leu | |
| NR_131032.2:n.189+7800C>T (ALG14) |