Canonical Allele Identifier:
CA804744506
Community Standard Title: NM_018900.4(PCDHA1):c.2395-76103A>C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140902846A>C , CM000667.2:g.140902846A>C | GRCh38 |
| NC_000005.9:g.140282431A>C , CM000667.1:g.140282431A>C | GRCh37 |
| NC_000005.8:g.140262615A>C | NCBI36 |
| NG_050674.1:g.51964A>C | |
| NG_050675.1:g.106649A>C | |
| NG_050677.1:g.112988A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018900.4:c.2395-76103A>C (PCDHA1) MANE Select | NP_061723.1:n.2395-76103A>C |
| NM_018901.4:c.2388+44410A>C (PCDHA10) MANE Select | NP_061724.1:n.2388+44410A>C |
| NM_018902.5:c.2391+31352A>C (PCDHA11) MANE Select | NP_061725.1:n.2391+31352A>C |
| NM_018903.4:c.2367+25007A>C (PCDHA12) MANE Select | NP_061726.1:n.2367+25007A>C |
| NM_018904.3:c.2394+18184A>C (PCDHA13) MANE Select | NP_061727.1:n.2394+18184A>C |
| NM_018905.3:c.2389-76103A>C (PCDHA2) MANE Select | NP_061728.1:n.2389-76103A>C |
| NM_018906.3:c.2395-76103A>C (PCDHA3) MANE Select | NP_061729.1:n.2395-76103A>C |
| NM_018907.4:c.2386-76103A>C (PCDHA4) MANE Select | NP_061730.1:n.2386-76103A>C |
| NM_018908.3:c.2353-76103A>C (PCDHA5) MANE Select | NP_061731.1:n.2353-76103A>C |
| NM_018909.4:c.2394+72361A>C (PCDHA6) MANE Select | NP_061732.1:n.2394+72361A>C |
| NM_018910.3:c.2355+66108A>C (PCDHA7) MANE Select | NP_061733.1:n.2355+66108A>C |
| NM_018911.3:c.2394+59131A>C (PCDHA8) MANE Select | NP_061734.1:n.2394+59131A>C |
| NM_031857.2:c.2394+51957A>C (PCDHA9) MANE Select | NP_114063.1:n.2394+51957A>C |
| ENST00000289272.3:c.2394+18184A>C (PCDHA13) MANE Select | ENSP00000289272.2:n.2394+18184A>C |
| ENST00000307360.6:c.2388+44410A>C (PCDHA10) MANE Select | ENSP00000304234.5:n.2388+44410A>C |
| ENST00000398631.3:c.2367+25007A>C (PCDHA12) MANE Select | ENSP00000381628.2:n.2367+25007A>C |
| ENST00000398640.7:c.2391+31352A>C (PCDHA11) MANE Select | ENSP00000381636.3:n.2391+31352A>C |
| ENST00000504120.4:c.2395-76103A>C (PCDHA1) MANE Select | ENSP00000420840.3:n.2395-76103A>C |
| ENST00000522353.3:c.2395-76103A>C (PCDHA3) MANE Select | ENSP00000429808.2:n.2395-76103A>C |
| ENST00000525929.2:c.2355+66108A>C (PCDHA7) MANE Select | ENSP00000436426.1:n.2355+66108A>C |
| ENST00000526136.2:c.2389-76103A>C (PCDHA2) MANE Select | ENSP00000431748.1:n.2389-76103A>C |
| ENST00000529310.6:c.2394+72361A>C (PCDHA6) MANE Select | ENSP00000433378.1:n.2394+72361A>C |
| ENST00000529859.2:c.2353-76103A>C (PCDHA5) MANE Select | ENSP00000436557.1:n.2353-76103A>C |
| ENST00000530339.2:c.2386-76103A>C (PCDHA4) MANE Select | ENSP00000435300.1:n.2386-76103A>C |
| ENST00000531613.2:c.2394+59131A>C (PCDHA8) MANE Select | ENSP00000434655.1:n.2394+59131A>C |
| ENST00000532602.2:c.2394+51957A>C (PCDHA9) MANE Select | ENSP00000436042.2:n.2394+51957A>C |
| NM_018900.3:c.2395-76103A>C (PCDHA1) | NP_061723.1:n.2395-76103A>C |
| NM_018901.3:c.2388+44410A>C (PCDHA10) | NP_061724.1:n.2388+44410A>C |
| NM_018902.4:c.2391+31352A>C (PCDHA11) | NP_061725.1:n.2391+31352A>C |
| NM_018903.3:c.2367+25007A>C (PCDHA12) | NP_061726.1:n.2367+25007A>C |
| NM_018904.2:c.2394+18184A>C (PCDHA13) | NP_061727.1:n.2394+18184A>C |
| NM_018905.2:c.2389-76103A>C (PCDHA2) | NP_061728.1:n.2389-76103A>C |
| NM_018906.2:c.2395-76103A>C (PCDHA3) | NP_061729.1:n.2395-76103A>C |
| NM_018907.3:c.2386-76103A>C (PCDHA4) | NP_061730.1:n.2386-76103A>C |
| NM_018908.2:c.2353-76103A>C (PCDHA5) | NP_061731.1:n.2353-76103A>C |
| NM_018909.3:c.2394+72361A>C (PCDHA6) | NP_061732.1:n.2394+72361A>C |
| NM_018910.2:c.2355+66108A>C (PCDHA7) | NP_061733.1:n.2355+66108A>C |
| NM_018911.2:c.2394+59131A>C (PCDHA8) | NP_061734.1:n.2394+59131A>C |
| NM_031411.2:c.1603-76103A>C (PCDHA1) | NP_113599.1:n.1603-76103A>C |
| NM_031411.3:c.1603-76103A>C (PCDHA1) | NP_113599.1:n.1603-76103A>C |
| NM_031849.2:c.1602+73153A>C (PCDHA6) | NP_114037.1:n.1602+73153A>C |
| NM_031849.3:c.1602+73153A>C (PCDHA6) | NP_114037.1:n.1602+73153A>C |
| NM_031857.1:c.2394+51957A>C (PCDHA9) | NP_114063.1:n.2394+51957A>C |
| NM_031860.2:c.1599+45199A>C (PCDHA10) | NP_114066.1:n.1599+45199A>C |
| NM_031860.3:c.1599+45199A>C (PCDHA10) | NP_114066.1:n.1599+45199A>C |
| ENST00000289272.2:c.2394+18184A>C (PCDHA13) | ENSP00000289272.2:n.2394+18184A>C |
| ENST00000307360.5:c.2388+44410A>C (PCDHA10) | ENSP00000304234.5:n.2388+44410A>C |
| ENST00000394633.7:c.1603-76103A>C (PCDHA1) | ENSP00000378129.3:n.1603-76103A>C |
| ENST00000398631.2:c.2367+25007A>C (PCDHA12) | ENSP00000381628.2:n.2367+25007A>C |
| ENST00000398640.6:c.2391+31352A>C (PCDHA11) | ENSP00000381636.2:n.2391+31352A>C |
| ENST00000409494.5:c.2394+18184A>C (PCDHA13) | ENSP00000386821.1:n.2394+18184A>C |
| ENST00000504120.3:c.2395-76103A>C (PCDHA1) | ENSP00000420840.2:n.2395-76103A>C |
| ENST00000506939.6:c.1599+45199A>C (PCDHA10) | ENSP00000421030.2:n.1599+45199A>C |
| ENST00000512229.6:c.2386-76103A>C (PCDHA4) | ENSP00000423470.2:n.2386-76103A>C |
| ENST00000522353.2:c.2395-76103A>C (PCDHA3) | ENSP00000429808.2:n.2395-76103A>C |
| ENST00000525929.1:c.2355+66108A>C (PCDHA7) | ENSP00000436426.1:n.2355+66108A>C |
| ENST00000526136.1:c.2389-76103A>C (PCDHA2) | ENSP00000431748.1:n.2389-76103A>C |
| ENST00000527624.1:c.1602+73153A>C (PCDHA6) | ENSP00000434113.1:n.1602+73153A>C |
| ENST00000529310.5:c.2394+72361A>C (PCDHA6) | ENSP00000433378.1:n.2394+72361A>C |
| ENST00000529619.5:c.2353-76103A>C (PCDHA5) | ENSP00000433416.1:n.2353-76103A>C |
| ENST00000529859.1:c.2353-76103A>C (PCDHA5) | ENSP00000436557.1:n.2353-76103A>C |
| ENST00000530339.1:c.2386-76103A>C (PCDHA4) | ENSP00000435300.1:n.2386-76103A>C |
| ENST00000531613.1:c.2394+59131A>C (PCDHA8) | ENSP00000434655.1:n.2394+59131A>C |
| ENST00000532602.1:c.2394+51957A>C (PCDHA9) | ENSP00000436042.1:n.2394+51957A>C |
| ENST00000617408.1:c.277+31352A>C (PCDHA11) | |
| ENST00000673403.1:c.2367+25007A>C (PCDHA12) | ENSP00000500277.1:n.2367+25007A>C |
| ENST00000673459.1:c.343+35015A>C (PCDHA10) |