Canonical Allele Identifier:
CA1586992476
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140992637G>C , CM000667.2:g.140992637G>C | GRCh38 |
| NC_000005.9:g.140372222G>C , CM000667.1:g.140372222G>C | GRCh37 |
| NC_000005.8:g.140352406G>C | NCBI36 |
| NG_050672.1:g.70921G>C | |
| NG_050674.1:g.141755G>C | |
| NG_050675.1:g.196440G>C | |
| NG_050677.1:g.202779G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253807.3:c.2581+10074G>C (PCDHAC1) MANE Select | ENSP00000253807.2:n.2581+10074G>C | |
| ENST00000289269.7:c.2713+10074G>C (PCDHAC2) MANE Select | ENSP00000289269.5:n.2713+10074G>C | |
| ENST00000289272.3:c.2542+10074G>C (PCDHA13) MANE Select | ENSP00000289272.2:n.2542+10074G>C | |
| ENST00000307360.6:c.2536+10074G>C (PCDHA10) MANE Select | ENSP00000304234.5:n.2536+10074G>C | |
| ENST00000398631.3:c.2515+10074G>C (PCDHA12) MANE Select | ENSP00000381628.2:n.2515+10074G>C | |
| ENST00000398640.7:c.2539+10074G>C (PCDHA11) MANE Select | ENSP00000381636.3:n.2539+10074G>C | |
| ENST00000504120.4:c.2542+10074G>C (PCDHA1) MANE Select | ENSP00000420840.3:n.2542+10074G>C | |
| ENST00000522353.3:c.2542+10074G>C (PCDHA3) MANE Select | ENSP00000429808.2:n.2542+10074G>C | |
| ENST00000525929.2:c.2503+10074G>C (PCDHA7) MANE Select | ENSP00000436426.1:n.2503+10074G>C | |
| ENST00000526136.2:c.2536+10074G>C (PCDHA2) MANE Select | ENSP00000431748.1:n.2536+10074G>C | |
| ENST00000529310.6:c.2542+10074G>C (PCDHA6) MANE Select | ENSP00000433378.1:n.2542+10074G>C | |
| ENST00000529859.2:c.2500+10074G>C (PCDHA5) MANE Select | ENSP00000436557.1:n.2500+10074G>C | |
| ENST00000530339.2:c.2533+10074G>C (PCDHA4) MANE Select | ENSP00000435300.1:n.2533+10074G>C | |
| ENST00000531613.2:c.2542+10074G>C (PCDHA8) MANE Select | ENSP00000434655.1:n.2542+10074G>C | |
| ENST00000532602.2:c.2542+10074G>C (PCDHA9) MANE Select | ENSP00000436042.2:n.2542+10074G>C | |
| ENST00000673403.1:c.*67+8488G>C (PCDHA12) | ENSP00000500277.1:n.*67+8488G>C | |
| ENST00000673410.1:n.76+4305G>C (PCDHAC2) | ||
| ENST00000673459.1:c.928+8388G>C (PCDHA10) | ||
| ENST00000253807.2:c.2581+10074G>C (PCDHAC1) | ENSP00000253807.2:n.2581+10074G>C | |
| ENST00000289269.6:c.2713+10074G>C (PCDHAC2) | ENSP00000289269.5:n.2713+10074G>C | |
| ENST00000289272.2:c.2542+10074G>C (PCDHA13) | ENSP00000289272.2:n.2542+10074G>C | |
| ENST00000307360.5:c.2536+10074G>C (PCDHA10) | ENSP00000304234.5:n.2536+10074G>C | |
| ENST00000394633.7:c.1750+10074G>C (PCDHA1) | ENSP00000378129.3:n.1750+10074G>C | |
| ENST00000398631.2:c.2515+10074G>C (PCDHA12) | ENSP00000381628.2:n.2515+10074G>C | |
| ENST00000398640.6:c.2539+10074G>C (PCDHA11) | ENSP00000381636.2:n.2539+10074G>C | |
| ENST00000409494.5:c.2542+10074G>C (PCDHA13) | ENSP00000386821.1:n.2542+10074G>C | |
| ENST00000504120.3:c.2542+10074G>C (PCDHA1) | ENSP00000420840.2:n.2542+10074G>C | |
| ENST00000506939.6:c.1747+10074G>C (PCDHA10) | ENSP00000421030.2:n.1747+10074G>C | |
| ENST00000512229.6:c.2533+10074G>C (PCDHA4) | ENSP00000423470.2:n.2533+10074G>C | |
| ENST00000522353.2:c.2542+10074G>C (PCDHA3) | ENSP00000429808.2:n.2542+10074G>C | |
| ENST00000525929.1:c.2503+10074G>C (PCDHA7) | ENSP00000436426.1:n.2503+10074G>C | |
| ENST00000526136.1:c.2536+10074G>C (PCDHA2) | ENSP00000431748.1:n.2536+10074G>C | |
| ENST00000527624.1:c.1750+10074G>C (PCDHA6) | ENSP00000434113.1:n.1750+10074G>C | |
| ENST00000529310.5:c.2542+10074G>C (PCDHA6) | ENSP00000433378.1:n.2542+10074G>C | |
| ENST00000529619.5:c.2500+10074G>C (PCDHA5) | ENSP00000433416.1:n.2500+10074G>C | |
| ENST00000529859.1:c.2500+10074G>C (PCDHA5) | ENSP00000436557.1:n.2500+10074G>C | |
| ENST00000530339.1:c.2533+10074G>C (PCDHA4) | ENSP00000435300.1:n.2533+10074G>C | |
| ENST00000531613.1:c.2542+10074G>C (PCDHA8) | ENSP00000434655.1:n.2542+10074G>C | |
| ENST00000532602.1:c.2542+10074G>C (PCDHA9) | ENSP00000436042.1:n.2542+10074G>C | |
| ENST00000613766.1:n.76+3649G>C (PCDHAC2) | ||
| ENST00000617408.1:c.425+10074G>C (PCDHA11) | ||
| ENST00000617566.1:n.219+10074G>C (PCDHAC2) | ||
| NM_018898.3:c.2581+10074G>C (PCDHAC1) | NP_061721.2:n.2581+10074G>C | |
| NM_018899.5:c.2713+10074G>C (PCDHAC2) | NP_061722.1:n.2713+10074G>C | |
| NM_018900.3:c.2542+10074G>C (PCDHA1) | NP_061723.1:n.2542+10074G>C | |
| NM_018901.3:c.2536+10074G>C (PCDHA10) | NP_061724.1:n.2536+10074G>C | |
| NM_018902.4:c.2539+10074G>C (PCDHA11) | NP_061725.1:n.2539+10074G>C | |
| NM_018903.3:c.2515+10074G>C (PCDHA12) | NP_061726.1:n.2515+10074G>C | |
| NM_018904.2:c.2542+10074G>C (PCDHA13) | NP_061727.1:n.2542+10074G>C | |
| NM_018905.2:c.2536+10074G>C (PCDHA2) | NP_061728.1:n.2536+10074G>C | |
| NM_018906.2:c.2542+10074G>C (PCDHA3) | NP_061729.1:n.2542+10074G>C | |
| NM_018907.3:c.2533+10074G>C (PCDHA4) | NP_061730.1:n.2533+10074G>C | |
| NM_018908.2:c.2500+10074G>C (PCDHA5) | NP_061731.1:n.2500+10074G>C | |
| NM_018909.3:c.2542+10074G>C (PCDHA6) | NP_061732.1:n.2542+10074G>C | |
| NM_018910.2:c.2503+10074G>C (PCDHA7) | NP_061733.1:n.2503+10074G>C | |
| NM_018911.2:c.2542+10074G>C (PCDHA8) | NP_061734.1:n.2542+10074G>C | |
| NM_031411.2:c.1750+10074G>C (PCDHA1) | NP_113599.1:n.1750+10074G>C | |
| NM_031849.2:c.1750+10074G>C (PCDHA6) | NP_114037.1:n.1750+10074G>C | |
| NM_031857.1:c.2542+10074G>C (PCDHA9) | NP_114063.1:n.2542+10074G>C | |
| NM_031860.2:c.1747+10074G>C (PCDHA10) | NP_114066.1:n.1747+10074G>C | |
| NM_018899.6:c.2713+10074G>C (PCDHAC2) MANE Select | NP_061722.1:n.2713+10074G>C | |
| NM_018901.4:c.2536+10074G>C (PCDHA10) MANE Select | NP_061724.1:n.2536+10074G>C | |
| NM_018903.4:c.2515+10074G>C (PCDHA12) MANE Select | NP_061726.1:n.2515+10074G>C | |
| NM_018904.3:c.2542+10074G>C (PCDHA13) MANE Select | NP_061727.1:n.2542+10074G>C | |
| NM_018905.3:c.2536+10074G>C (PCDHA2) MANE Select | NP_061728.1:n.2536+10074G>C | |
| NM_018906.3:c.2542+10074G>C (PCDHA3) MANE Select | NP_061729.1:n.2542+10074G>C | |
| NM_018907.4:c.2533+10074G>C (PCDHA4) MANE Select | NP_061730.1:n.2533+10074G>C | |
| NM_018908.3:c.2500+10074G>C (PCDHA5) MANE Select | NP_061731.1:n.2500+10074G>C | |
| NM_018909.4:c.2542+10074G>C (PCDHA6) MANE Select | NP_061732.1:n.2542+10074G>C | |
| NM_018910.3:c.2503+10074G>C (PCDHA7) MANE Select | NP_061733.1:n.2503+10074G>C | |
| NM_018911.3:c.2542+10074G>C (PCDHA8) MANE Select | NP_061734.1:n.2542+10074G>C | |
| NM_018898.5:c.2581+10074G>C (PCDHAC1) MANE Select | NP_061721.2:n.2581+10074G>C | |
| NM_018900.4:c.2542+10074G>C (PCDHA1) MANE Select | NP_061723.1:n.2542+10074G>C | |
| NM_018902.5:c.2539+10074G>C (PCDHA11) MANE Select | NP_061725.1:n.2539+10074G>C | |
| NM_031411.3:c.1750+10074G>C (PCDHA1) | NP_113599.1:n.1750+10074G>C | |
| NM_031849.3:c.1750+10074G>C (PCDHA6) | NP_114037.1:n.1750+10074G>C | |
| NM_031857.2:c.2542+10074G>C (PCDHA9) MANE Select | NP_114063.1:n.2542+10074G>C | |
| NM_031860.3:c.1747+10074G>C (PCDHA10) | NP_114066.1:n.1747+10074G>C |