Linked Data
ClinVar Variation Id:
6193
ClinVar RCV Id:
RCV000006570
dbSNP Id:
rs121908690
gnomAD v2:
1-46733212-G-A
gnomAD v3:
1-46267540-G-A
gnomAD v4:
1-46267540-G-A
PubMed:
PMID:10362365
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46267540G>A , CM000663.2:g.46267540G>A | GRCh38 |
| NC_000001.10:g.46733212G>A , CM000663.1:g.46733212G>A | GRCh37 |
| NC_000001.9:g.46505799G>A | NCBI36 |
| NG_012144.1:g.24846G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371975.9:c.973G>A (RAD54L) MANE Select | ENSP00000361043.4:p.Gly325Arg | |
| ENST00000655446.1:c.*641G>A (RAD54L) | ENSP00000499451.1:n.*641G>A | |
| ENST00000664182.1:n.36G>A (RAD54L) | ||
| ENST00000671528.1:c.973G>A (RAD54L) | ENSP00000499652.1:p.Gly325Arg | |
| ENST00000371975.8:c.973G>A (RAD54L) | ENSP00000361043.4:p.Gly325Arg | |
| ENST00000442598.5:c.973G>A (RAD54L) | ENSP00000396113.1:p.Gly325Arg | |
| ENST00000472889.2:c.699G>A (RAD54L) | ||
| ENST00000473251.2:c.434G>A (RAD54L) | ||
| ENST00000476687.2:c.130G>A (RAD54L) | ENSP00000479734.1:p.Gly44Arg | |
| ENST00000487700.1:n.428G>A (RAD54L) | ||
| ENST00000496156.5:c.638C>T (LRRC41) | ENSP00000477909.1:p.Pro213Leu | |
| NM_001142548.1:c.973G>A (RAD54L) | NP_001136020.1:p.Gly325Arg | |
| NM_003579.3:c.973G>A (RAD54L) | NP_003570.2:p.Gly325Arg | |
| XM_006710975.2:c.433G>A (RAD54L) | XP_006711038.1:p.Gly145Arg | |
| XM_011542299.1:c.199G>A (RAD54L) | XP_011540601.1:p.Gly67Arg | |
| XM_011542300.1:c.199G>A (RAD54L) | XP_011540602.1:p.Gly67Arg | |
| XM_006710975.3:c.433G>A (RAD54L) | XP_006711038.1:p.Gly145Arg | |
| XM_011542299.2:c.199G>A (RAD54L) | XP_011540601.1:p.Gly67Arg | |
| XM_011542300.3:c.199G>A (RAD54L) | XP_011540602.1:p.Gly67Arg | |
| NM_003579.4:c.973G>A (RAD54L) MANE Select | NP_003570.2:p.Gly325Arg | |
| NM_001370766.1:c.433G>A (RAD54L) | NP_001357695.1:p.Gly145Arg | |
| NM_001142548.2:c.973G>A (RAD54L) | NP_001136020.1:p.Gly325Arg |