Canonical Allele Identifier: CA3470188

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141365555G>T , CM000667.2:g.141365555G>T GRCh38
NC_000005.9:g.140745122G>T , CM000667.1:g.140745122G>T GRCh37
NC_000005.8:g.140725306G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000517417.3:c.2421+32450G>T (PCDHGA1) MANE Select ENSP00000431083.1:n.2421+32450G>T
ENST00000518069.2:c.1225G>T (PCDHGA5) MANE Select ENSP00000429834.1:p.Asp409Tyr
ENST00000522605.2:c.2421+2999G>T (PCDHGB2) MANE Select ENSP00000429018.1:n.2421+2999G>T
ENST00000523390.2:c.2409+12886G>T (PCDHGB1) MANE Select ENSP00000429273.1:n.2409+12886G>T
ENST00000253812.8:c.2424+19098G>T (PCDHGA3) MANE Select ENSP00000253812.7:n.2424+19098G>T
ENST00000394576.3:c.2424+24160G>T (PCDHGA2) MANE Select ENSP00000378077.2:n.2424+24160G>T
ENST00000571252.3:c.2514+7934G>T (PCDHGA4) MANE Select ENSP00000458570.2:n.2514+7934G>T
ENST00000253812.7:c.2424+19098G>T (PCDHGA3) ENSP00000253812.6:n.2424+19098G>T
ENST00000394576.2:c.2424+24160G>T (PCDHGA2) ENSP00000378077.2:n.2424+24160G>T
ENST00000517417.2:c.2421+32450G>T (PCDHGA1) ENSP00000431083.1:n.2421+32450G>T
ENST00000518069.1:c.1225G>T (PCDHGA5) ENSP00000429834.1:p.Asp409Tyr
ENST00000522605.1:c.2421+2999G>T (PCDHGB2) ENSP00000429018.1:n.2421+2999G>T
ENST00000523390.1:c.2409+12886G>T (PCDHGB1) ENSP00000429273.1:n.2409+12886G>T
ENST00000571252.2:c.2514+7934G>T (PCDHGA4) ENSP00000458570.2:n.2514+7934G>T
ENST00000611914.1:c.1225G>T (PCDHGA5) ENSP00000480337.1:p.Asp409Tyr
ENST00000612467.1:c.2327+19098G>T (PCDHGA3) ENSP00000481801.1:n.2327+19098G>T
NM_018912.2:c.2421+32450G>T (PCDHGA1) NP_061735.1:n.2421+32450G>T
NM_018915.3:c.2424+24160G>T (PCDHGA2) NP_061738.1:n.2424+24160G>T
NM_018916.3:c.2424+19098G>T (PCDHGA3) NP_061739.2:n.2424+19098G>T
NM_018917.3:c.2514+7934G>T (PCDHGA4) NP_061740.2:n.2514+7934G>T
NM_018918.2:c.1225G>T (PCDHGA5) NP_061741.1:p.Asp409Tyr
NM_018922.2:c.2409+12886G>T (PCDHGB1) NP_061745.1:n.2409+12886G>T
NM_018923.2:c.2421+2999G>T (PCDHGB2) NP_061746.1:n.2421+2999G>T
NM_032054.1:c.1225G>T (PCDHGA5) NP_114443.1:p.Asp409Tyr
NM_018915.4:c.2424+24160G>T (PCDHGA2) MANE Select NP_061738.1:n.2424+24160G>T
NM_018917.4:c.2514+7934G>T (PCDHGA4) MANE Select NP_061740.2:n.2514+7934G>T
NM_018916.4:c.2424+19098G>T (PCDHGA3) MANE Select NP_061739.2:n.2424+19098G>T
NM_018912.3:c.2421+32450G>T (PCDHGA1) MANE Select NP_061735.1:n.2421+32450G>T
NM_018918.3:c.1225G>T (PCDHGA5) MANE Select NP_061741.1:p.Asp409Tyr
NM_018922.3:c.2409+12886G>T (PCDHGB1) MANE Select NP_061745.1:n.2409+12886G>T
NM_018923.3:c.2421+2999G>T (PCDHGB2) MANE Select NP_061746.1:n.2421+2999G>T
NM_032054.2:c.1225G>T (PCDHGA5) NP_114443.1:p.Asp409Tyr