Linked Data
ClinVar Variation Id:
417969
ClinVar RCV Id:
RCV000477966
dbSNP Id:
rs1060505055
gnomAD v4:
6-31759476-G-T
PubMed:
PMID:28175301
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31759476G>T , CM000668.2:g.31759476G>T | GRCh38 |
| NC_000006.11:g.31727253G>T , CM000668.1:g.31727253G>T | GRCh37 |
| NC_000006.10:g.31835232G>T | NCBI36 |
| NG_011611.1:g.24480G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375750.9:c.1459G>T (MSH5) MANE Select | ENSP00000364903.3:p.Asp487Tyr | |
| ENST00000375755.8:c.1459G>T (MSH5) | ENSP00000364908.3:p.Asp487Tyr | |
| ENST00000650702.1:n.1809G>T (MSH5) | ||
| ENST00000375703.7:c.1459G>T (MSH5) | ENSP00000364855.3:p.Asp487Tyr | |
| ENST00000375740.7:c.1510G>T (MSH5) | ENSP00000364892.3:p.Asp504Tyr | |
| ENST00000375750.7:c.1459G>T (MSH5) | ENSP00000364903.3:p.Asp487Tyr | |
| ENST00000375755.7:c.1459G>T (MSH5) | ENSP00000364908.3:p.Asp487Tyr | |
| ENST00000395853.5:c.481G>T (MSH5) | ENSP00000379194.1:p.Asp161Tyr | |
| ENST00000423982.6:c.1459G>T (MSH5) | ENSP00000406352.2:p.Asp487Tyr | |
| ENST00000450148.5:c.985G>T (MSH5) | ENSP00000394971.1:p.Asp329Tyr | |
| ENST00000463144.5:c.1146G>T (MSH5) | ||
| ENST00000467319.1:n.662G>T (MSH5) | ||
| ENST00000468136.5:n.665G>T (MSH5) | ||
| ENST00000493662.6:c.1510G>T (MSH5-SAPCD1) | ENSP00000417871.2:p.Asp504Tyr | |
| ENST00000498473.6:c.32G>T (MSH5-SAPCD1) | ||
| NM_002441.4:c.1459G>T (MSH5) | NP_002432.1:p.Asp487Tyr | |
| NM_025259.5:c.1510G>T (MSH5) | NP_079535.4:p.Asp504Tyr | |
| NM_172165.3:c.1459G>T (MSH5) | NP_751897.1:p.Asp487Tyr | |
| NM_172166.3:c.1459G>T (MSH5) | NP_751898.1:p.Asp487Tyr | |
| NR_037846.1:n.1638G>T (MSH5-SAPCD1) | ||
| NM_172166.4:c.1459G>T (MSH5) MANE Select | NP_751898.1:p.Asp487Tyr | |
| NM_002441.5:c.1459G>T (MSH5) | NP_002432.1:p.Asp487Tyr | |
| NM_025259.6:c.1510G>T (MSH5) | NP_079535.4:p.Asp504Tyr | |
| NM_172165.4:c.1459G>T (MSH5) | NP_751897.1:p.Asp487Tyr |