Canonical Allele Identifier: CA12106802
Gene: PCDHA13 HGNC NCBI
PCDHA10 HGNC NCBI
PCDHA12 HGNC NCBI
PCDHA11 HGNC NCBI
PCDHA1 HGNC NCBI
PCDHA3 HGNC NCBI
PCDHA7 HGNC NCBI
PCDHA2 HGNC NCBI
PCDHA6 HGNC NCBI
PCDHA5 HGNC NCBI
PCDHA4 HGNC NCBI
PCDHA8 HGNC NCBI
PCDHA9 HGNC NCBI
COSMIC:
COSN14848960 (not active)
MyVariant.info:
GRCh38 chr5:g.140902846A>G
GRCh37 chr5:g.140282431A>G
gnomAD v2:
5:140282431 A / G
gnomAD v3:
5:140902846 A / G
gnomAD v4:
chr5-140902846-A-G
Joint Max Group AF 0.17659621 (AFR)
Genomes Max Group AF 0.17659621 (AFR)
dbSNP:
1119032
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140902846A>G , CM000667.2:g.140902846A>G GRCh38
NC_000005.9:g.140282431A>G , CM000667.1:g.140282431A>G GRCh37
NC_000005.8:g.140262615A>G NCBI36
NG_050674.1:g.51964A>G
NG_050675.1:g.106649A>G
NG_050677.1:g.112988A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000289272.3:c.2394+18184A>G (PCDHA13) MANE Select ENSP00000289272.2:n.2394+18184A>G
ENST00000307360.6:c.2388+44410A>G (PCDHA10) MANE Select ENSP00000304234.5:n.2388+44410A>G
ENST00000398631.3:c.2367+25007A>G (PCDHA12) MANE Select ENSP00000381628.2:n.2367+25007A>G
ENST00000398640.7:c.2391+31352A>G (PCDHA11) MANE Select ENSP00000381636.3:n.2391+31352A>G
ENST00000504120.4:c.2395-76103A>G (PCDHA1) MANE Select ENSP00000420840.3:n.2395-76103A>G
ENST00000522353.3:c.2395-76103A>G (PCDHA3) MANE Select ENSP00000429808.2:n.2395-76103A>G
ENST00000525929.2:c.2355+66108A>G (PCDHA7) MANE Select ENSP00000436426.1:n.2355+66108A>G
ENST00000526136.2:c.2389-76103A>G (PCDHA2) MANE Select ENSP00000431748.1:n.2389-76103A>G
ENST00000529310.6:c.2394+72361A>G (PCDHA6) MANE Select ENSP00000433378.1:n.2394+72361A>G
ENST00000529859.2:c.2353-76103A>G (PCDHA5) MANE Select ENSP00000436557.1:n.2353-76103A>G
ENST00000530339.2:c.2386-76103A>G (PCDHA4) MANE Select ENSP00000435300.1:n.2386-76103A>G
ENST00000531613.2:c.2394+59131A>G (PCDHA8) MANE Select ENSP00000434655.1:n.2394+59131A>G
ENST00000532602.2:c.2394+51957A>G (PCDHA9) MANE Select ENSP00000436042.2:n.2394+51957A>G
ENST00000673403.1:c.2367+25007A>G (PCDHA12) ENSP00000500277.1:n.2367+25007A>G
ENST00000673459.1:c.343+35015A>G (PCDHA10)
ENST00000289272.2:c.2394+18184A>G (PCDHA13) ENSP00000289272.2:n.2394+18184A>G
ENST00000307360.5:c.2388+44410A>G (PCDHA10) ENSP00000304234.5:n.2388+44410A>G
ENST00000394633.7:c.1603-76103A>G (PCDHA1) ENSP00000378129.3:n.1603-76103A>G
ENST00000398631.2:c.2367+25007A>G (PCDHA12) ENSP00000381628.2:n.2367+25007A>G
ENST00000398640.6:c.2391+31352A>G (PCDHA11) ENSP00000381636.2:n.2391+31352A>G
ENST00000409494.5:c.2394+18184A>G (PCDHA13) ENSP00000386821.1:n.2394+18184A>G
ENST00000504120.3:c.2395-76103A>G (PCDHA1) ENSP00000420840.2:n.2395-76103A>G
ENST00000506939.6:c.1599+45199A>G (PCDHA10) ENSP00000421030.2:n.1599+45199A>G
ENST00000512229.6:c.2386-76103A>G (PCDHA4) ENSP00000423470.2:n.2386-76103A>G
ENST00000522353.2:c.2395-76103A>G (PCDHA3) ENSP00000429808.2:n.2395-76103A>G
ENST00000525929.1:c.2355+66108A>G (PCDHA7) ENSP00000436426.1:n.2355+66108A>G
ENST00000526136.1:c.2389-76103A>G (PCDHA2) ENSP00000431748.1:n.2389-76103A>G
ENST00000527624.1:c.1602+73153A>G (PCDHA6) ENSP00000434113.1:n.1602+73153A>G
ENST00000529310.5:c.2394+72361A>G (PCDHA6) ENSP00000433378.1:n.2394+72361A>G
ENST00000529619.5:c.2353-76103A>G (PCDHA5) ENSP00000433416.1:n.2353-76103A>G
ENST00000529859.1:c.2353-76103A>G (PCDHA5) ENSP00000436557.1:n.2353-76103A>G
ENST00000530339.1:c.2386-76103A>G (PCDHA4) ENSP00000435300.1:n.2386-76103A>G
ENST00000531613.1:c.2394+59131A>G (PCDHA8) ENSP00000434655.1:n.2394+59131A>G
ENST00000532602.1:c.2394+51957A>G (PCDHA9) ENSP00000436042.1:n.2394+51957A>G
ENST00000617408.1:c.277+31352A>G (PCDHA11)
NM_018900.3:c.2395-76103A>G (PCDHA1) NP_061723.1:n.2395-76103A>G
NM_018901.3:c.2388+44410A>G (PCDHA10) NP_061724.1:n.2388+44410A>G
NM_018902.4:c.2391+31352A>G (PCDHA11) NP_061725.1:n.2391+31352A>G
NM_018903.3:c.2367+25007A>G (PCDHA12) NP_061726.1:n.2367+25007A>G
NM_018904.2:c.2394+18184A>G (PCDHA13) NP_061727.1:n.2394+18184A>G
NM_018905.2:c.2389-76103A>G (PCDHA2) NP_061728.1:n.2389-76103A>G
NM_018906.2:c.2395-76103A>G (PCDHA3) NP_061729.1:n.2395-76103A>G
NM_018907.3:c.2386-76103A>G (PCDHA4) NP_061730.1:n.2386-76103A>G
NM_018908.2:c.2353-76103A>G (PCDHA5) NP_061731.1:n.2353-76103A>G
NM_018909.3:c.2394+72361A>G (PCDHA6) NP_061732.1:n.2394+72361A>G
NM_018910.2:c.2355+66108A>G (PCDHA7) NP_061733.1:n.2355+66108A>G
NM_018911.2:c.2394+59131A>G (PCDHA8) NP_061734.1:n.2394+59131A>G
NM_031411.2:c.1603-76103A>G (PCDHA1) NP_113599.1:n.1603-76103A>G
NM_031849.2:c.1602+73153A>G (PCDHA6) NP_114037.1:n.1602+73153A>G
NM_031857.1:c.2394+51957A>G (PCDHA9) NP_114063.1:n.2394+51957A>G
NM_031860.2:c.1599+45199A>G (PCDHA10) NP_114066.1:n.1599+45199A>G
NM_018901.4:c.2388+44410A>G (PCDHA10) MANE Select NP_061724.1:n.2388+44410A>G
NM_018903.4:c.2367+25007A>G (PCDHA12) MANE Select NP_061726.1:n.2367+25007A>G
NM_018904.3:c.2394+18184A>G (PCDHA13) MANE Select NP_061727.1:n.2394+18184A>G
NM_018905.3:c.2389-76103A>G (PCDHA2) MANE Select NP_061728.1:n.2389-76103A>G
NM_018906.3:c.2395-76103A>G (PCDHA3) MANE Select NP_061729.1:n.2395-76103A>G
NM_018907.4:c.2386-76103A>G (PCDHA4) MANE Select NP_061730.1:n.2386-76103A>G
NM_018908.3:c.2353-76103A>G (PCDHA5) MANE Select NP_061731.1:n.2353-76103A>G
NM_018909.4:c.2394+72361A>G (PCDHA6) MANE Select NP_061732.1:n.2394+72361A>G
NM_018910.3:c.2355+66108A>G (PCDHA7) MANE Select NP_061733.1:n.2355+66108A>G
NM_018911.3:c.2394+59131A>G (PCDHA8) MANE Select NP_061734.1:n.2394+59131A>G
NM_018900.4:c.2395-76103A>G (PCDHA1) MANE Select NP_061723.1:n.2395-76103A>G
NM_018902.5:c.2391+31352A>G (PCDHA11) MANE Select NP_061725.1:n.2391+31352A>G
NM_031411.3:c.1603-76103A>G (PCDHA1) NP_113599.1:n.1603-76103A>G
NM_031849.3:c.1602+73153A>G (PCDHA6) NP_114037.1:n.1602+73153A>G
NM_031857.2:c.2394+51957A>G (PCDHA9) MANE Select NP_114063.1:n.2394+51957A>G
NM_031860.3:c.1599+45199A>G (PCDHA10) NP_114066.1:n.1599+45199A>G
Search 100 bp 5'
Search 100 bp 3'