Linked Data
ClinVar Variation Id:
161724
ClinVar RCV Id:
RCV000149260
dbSNP Id:
rs193920994
gnomAD v2:
5-140236799-C-T
gnomAD v4:
5-140857214-C-T
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140857214C>T , CM000667.2:g.140857214C>T | GRCh38 |
| NC_000005.9:g.140236799C>T , CM000667.1:g.140236799C>T | GRCh37 |
| NC_000005.8:g.140216983C>T | NCBI36 |
| NG_050674.1:g.6332C>T | |
| NG_050675.1:g.61017C>T | |
| NG_050677.1:g.67356C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307360.6:c.1166C>T (PCDHA10) MANE Select | ENSP00000304234.5:p.Thr389Met | |
| ENST00000504120.4:c.2394+68530C>T (PCDHA1) MANE Select | ENSP00000420840.3:n.2394+68530C>T | |
| ENST00000522353.3:c.2394+53623C>T (PCDHA3) MANE Select | ENSP00000429808.2:n.2394+53623C>T | |
| ENST00000525929.2:c.2355+20476C>T (PCDHA7) MANE Select | ENSP00000436426.1:n.2355+20476C>T | |
| ENST00000526136.2:c.2388+59862C>T (PCDHA2) MANE Select | ENSP00000431748.1:n.2388+59862C>T | |
| ENST00000529310.6:c.2394+26729C>T (PCDHA6) MANE Select | ENSP00000433378.1:n.2394+26729C>T | |
| ENST00000529859.2:c.2352+33087C>T (PCDHA5) MANE Select | ENSP00000436557.1:n.2352+33087C>T | |
| ENST00000530339.2:c.2385+47642C>T (PCDHA4) MANE Select | ENSP00000435300.1:n.2385+47642C>T | |
| ENST00000531613.2:c.2394+13499C>T (PCDHA8) MANE Select | ENSP00000434655.1:n.2394+13499C>T | |
| ENST00000532602.2:c.2394+6325C>T (PCDHA9) MANE Select | ENSP00000436042.2:n.2394+6325C>T | |
| ENST00000307360.5:c.1166C>T (PCDHA10) | ENSP00000304234.5:p.Thr389Met | |
| ENST00000394633.7:c.1602+69322C>T (PCDHA1) | ENSP00000378129.3:n.1602+69322C>T | |
| ENST00000504120.3:c.2394+68530C>T (PCDHA1) | ENSP00000420840.2:n.2394+68530C>T | |
| ENST00000506939.6:c.1166C>T (PCDHA10) | ENSP00000421030.2:p.Thr389Met | |
| ENST00000512229.6:c.2385+47642C>T (PCDHA4) | ENSP00000423470.2:n.2385+47642C>T | |
| ENST00000522353.2:c.2394+53623C>T (PCDHA3) | ENSP00000429808.2:n.2394+53623C>T | |
| ENST00000525929.1:c.2355+20476C>T (PCDHA7) | ENSP00000436426.1:n.2355+20476C>T | |
| ENST00000526136.1:c.2388+59862C>T (PCDHA2) | ENSP00000431748.1:n.2388+59862C>T | |
| ENST00000527624.1:c.1602+27521C>T (PCDHA6) | ENSP00000434113.1:n.1602+27521C>T | |
| ENST00000529310.5:c.2394+26729C>T (PCDHA6) | ENSP00000433378.1:n.2394+26729C>T | |
| ENST00000529619.5:c.2352+33087C>T (PCDHA5) | ENSP00000433416.1:n.2352+33087C>T | |
| ENST00000529859.1:c.2352+33087C>T (PCDHA5) | ENSP00000436557.1:n.2352+33087C>T | |
| ENST00000530339.1:c.2385+47642C>T (PCDHA4) | ENSP00000435300.1:n.2385+47642C>T | |
| ENST00000531613.1:c.2394+13499C>T (PCDHA8) | ENSP00000434655.1:n.2394+13499C>T | |
| ENST00000532602.1:c.2394+6325C>T (PCDHA9) | ENSP00000436042.1:n.2394+6325C>T | |
| ENST00000562220.2:c.1166C>T (PCDHA10) | ENSP00000478748.1:p.Thr389Met | |
| NM_018900.3:c.2394+68530C>T (PCDHA1) | NP_061723.1:n.2394+68530C>T | |
| NM_018901.3:c.1166C>T (PCDHA10) | NP_061724.1:p.Thr389Met | |
| NM_018905.2:c.2388+59862C>T (PCDHA2) | NP_061728.1:n.2388+59862C>T | |
| NM_018906.2:c.2394+53623C>T (PCDHA3) | NP_061729.1:n.2394+53623C>T | |
| NM_018907.3:c.2385+47642C>T (PCDHA4) | NP_061730.1:n.2385+47642C>T | |
| NM_018908.2:c.2352+33087C>T (PCDHA5) | NP_061731.1:n.2352+33087C>T | |
| NM_018909.3:c.2394+26729C>T (PCDHA6) | NP_061732.1:n.2394+26729C>T | |
| NM_018910.2:c.2355+20476C>T (PCDHA7) | NP_061733.1:n.2355+20476C>T | |
| NM_018911.2:c.2394+13499C>T (PCDHA8) | NP_061734.1:n.2394+13499C>T | |
| NM_031411.2:c.1602+69322C>T (PCDHA1) | NP_113599.1:n.1602+69322C>T | |
| NM_031849.2:c.1602+27521C>T (PCDHA6) | NP_114037.1:n.1602+27521C>T | |
| NM_031857.1:c.2394+6325C>T (PCDHA9) | NP_114063.1:n.2394+6325C>T | |
| NM_031859.2:c.1166C>T (PCDHA10) | NP_114065.1:p.Thr389Met | |
| NM_031860.2:c.1166C>T (PCDHA10) | NP_114066.1:p.Thr389Met | |
| NM_018901.4:c.1166C>T (PCDHA10) MANE Select | NP_061724.1:p.Thr389Met | |
| NM_018905.3:c.2388+59862C>T (PCDHA2) MANE Select | NP_061728.1:n.2388+59862C>T | |
| NM_018906.3:c.2394+53623C>T (PCDHA3) MANE Select | NP_061729.1:n.2394+53623C>T | |
| NM_018907.4:c.2385+47642C>T (PCDHA4) MANE Select | NP_061730.1:n.2385+47642C>T | |
| NM_018908.3:c.2352+33087C>T (PCDHA5) MANE Select | NP_061731.1:n.2352+33087C>T | |
| NM_018909.4:c.2394+26729C>T (PCDHA6) MANE Select | NP_061732.1:n.2394+26729C>T | |
| NM_018910.3:c.2355+20476C>T (PCDHA7) MANE Select | NP_061733.1:n.2355+20476C>T | |
| NM_018911.3:c.2394+13499C>T (PCDHA8) MANE Select | NP_061734.1:n.2394+13499C>T | |
| NM_018900.4:c.2394+68530C>T (PCDHA1) MANE Select | NP_061723.1:n.2394+68530C>T | |
| NM_031411.3:c.1602+69322C>T (PCDHA1) | NP_113599.1:n.1602+69322C>T | |
| NM_031849.3:c.1602+27521C>T (PCDHA6) | NP_114037.1:n.1602+27521C>T | |
| NM_031857.2:c.2394+6325C>T (PCDHA9) MANE Select | NP_114063.1:n.2394+6325C>T | |
| NM_031859.3:c.1166C>T (PCDHA10) | NP_114065.1:p.Thr389Met | |
| NM_031860.3:c.1166C>T (PCDHA10) | NP_114066.1:p.Thr389Met |