Linked Data
ClinVar Variation Id:
423288
ClinVar RCV Id:
RCV000483497
dbSNP Id:
rs1064796346
gnomAD v4:
X-153934894-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153934894C>A , CM000685.2:g.153934894C>A | GRCh38 |
| NC_000023.10:g.153200347C>A , CM000685.1:g.153200347C>A | GRCh37 |
| NC_000023.9:g.152853541C>A | NCBI36 |
| NG_012522.1:g.14886G>T | |
| NG_031987.1:g.5261G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477750.6:n.187G>T (NAA10) | ||
| ENST00000700299.1:n.129G>T (NAA10) | ||
| ENST00000464845.6:c.11G>T (NAA10) MANE Select | ENSP00000417763.1:p.Arg4Leu | |
| ENST00000370009.5:c.11G>T (NAA10) | ENSP00000359026.1:p.Arg4Leu | |
| ENST00000370011.7:c.11G>T (NAA10) | ENSP00000359028.3:p.Arg4Leu | |
| ENST00000370015.8:c.11G>T (NAA10) | ENSP00000359032.4:p.Arg4Leu | |
| ENST00000393710.7:n.122G>T (NAA10) | ||
| ENST00000393712.7:c.11G>T (NAA10) | ENSP00000377315.3:p.Arg4Leu | |
| ENST00000432089.1:c.11G>T (NAA10) | ENSP00000413668.1:p.Arg4Leu | |
| ENST00000464845.5:c.11G>T (NAA10) | ENSP00000417763.1:p.Arg4Leu | |
| ENST00000466877.5:n.122G>T (NAA10) | ||
| ENST00000477750.5:n.187G>T (NAA10) | ||
| ENST00000478177.1:n.122G>T (NAA10) | ||
| ENST00000488481.1:n.113G>T (NAA10) | ||
| ENST00000494813.5:n.106G>T (ARHGAP4) | ||
| NM_001256119.1:c.11G>T (NAA10) | NP_001243048.1:p.Arg4Leu | |
| NM_001256120.1:c.11G>T (NAA10) | NP_001243049.1:p.Arg4Leu | |
| NM_003491.3:c.11G>T (NAA10) | NP_003482.1:p.Arg4Leu | |
| NM_003491.4:c.11G>T (NAA10) MANE Select | NP_003482.1:p.Arg4Leu | |
| NM_001256119.2:c.11G>T (NAA10) | NP_001243048.1:p.Arg4Leu | |
| NM_001256120.2:c.11G>T (NAA10) | NP_001243049.1:p.Arg4Leu |