Linked Data
ClinVar Variation Id:
1339595
ClinVar RCV Id:
RCV001824497
dbSNP Id:
rs1044749421
gnomAD v2:
11-71817071-G-A
gnomAD v3:
11-72106025-G-A
gnomAD v4:
11-72106025-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72106025G>A , CM000673.2:g.72106025G>A | GRCh38 |
| NC_000011.9:g.71817071G>A , CM000673.1:g.71817071G>A | GRCh37 |
| NC_000011.8:g.71494719G>A | NCBI36 |
| NG_021423.1:g.30690G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541899.3:c.74G>A (TOMT) MANE Select | ENSP00000494667.1:p.Arg25Gln | |
| ENST00000541899.2:c.74G>A (TOMT) | ENSP00000494667.1:p.Arg25Gln | |
| ENST00000643715.1:c.438-2580G>A (LRTOMT) | ENSP00000496019.1:n.438-2580G>A | |
| ENST00000646163.1:c.73-31G>A (LRTOMT) | ENSP00000494749.1:n.73-31G>A | |
| ENST00000307198.11:c.173G>A (LRRC51) | ENSP00000305742.7:p.Arg58Gln | |
| ENST00000419228.2:c.84-31G>A (LRRC51) | ENSP00000392233.2:n.84-31G>A | |
| ENST00000427369.6:c.576G>A (LRRC51) | ENSP00000409403.2:p.Pro192= | |
| ENST00000435085.5:c.173G>A (LRRC51) | ENSP00000409789.1:p.Arg58Gln | |
| ENST00000439209.5:c.438-2580G>A (LRRC51) | ENSP00000395139.1:n.438-2580G>A | |
| ENST00000541899.1:n.231G>A (LRRC51) | ||
| ENST00000544409.5:c.487-31G>A (LRRC51) | ENSP00000440969.1:n.487-31G>A | |
| NM_001145308.4:c.173G>A (LRTOMT) | NP_001138780.1:p.Arg58Gln | |
| NM_001145309.3:c.173G>A (LRTOMT) | NP_001138781.1:p.Arg58Gln | |
| NM_001145310.3:c.84-31G>A (LRTOMT) | NP_001138782.1:n.84-31G>A | |
| XM_011544849.1:c.398G>A (LRTOMT) | XP_011543151.1:p.Arg133Gln | |
| XM_024448401.1:c.398G>A (LRTOMT) | XP_024304169.1:p.Arg133Gln | |
| NM_001145308.5:c.173G>A (LRTOMT) | NP_001138780.1:p.Arg58Gln | |
| NM_001145309.4:c.173G>A (LRTOMT) | NP_001138781.1:p.Arg58Gln | |
| NM_001145310.4:c.84-31G>A (LRTOMT) | NP_001138782.1:n.84-31G>A | |
| NM_001393500.1:c.74G>A (TOMT) | NP_001380429.1:p.Arg25Gln | |
| NM_001393500.2:c.74G>A (TOMT) MANE Select | NP_001380429.1:p.Arg25Gln |