Canonical Allele Identifier: CA3469035

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141355954C>T , CM000667.2:g.141355954C>T GRCh38
NC_000005.9:g.140735521C>T , CM000667.1:g.140735521C>T GRCh37
NC_000005.8:g.140715705C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000517417.3:c.2421+22849C>T (PCDHGA1) MANE Select ENSP00000431083.1:n.2421+22849C>T
ENST00000523390.2:c.2409+3285C>T (PCDHGB1) MANE Select ENSP00000429273.1:n.2409+3285C>T
ENST00000253812.8:c.2424+9497C>T (PCDHGA3) MANE Select ENSP00000253812.7:n.2424+9497C>T
ENST00000394576.3:c.2424+14559C>T (PCDHGA2) MANE Select ENSP00000378077.2:n.2424+14559C>T
ENST00000571252.3:c.847C>T (PCDHGA4) MANE Select ENSP00000458570.2:p.Arg283Cys
ENST00000253812.7:c.2424+9497C>T (PCDHGA3) ENSP00000253812.6:n.2424+9497C>T
ENST00000394576.2:c.2424+14559C>T (PCDHGA2) ENSP00000378077.2:n.2424+14559C>T
ENST00000517417.2:c.2421+22849C>T (PCDHGA1) ENSP00000431083.1:n.2421+22849C>T
ENST00000523390.1:c.2409+3285C>T (PCDHGB1) ENSP00000429273.1:n.2409+3285C>T
ENST00000571252.2:c.847C>T (PCDHGA4) ENSP00000458570.2:p.Arg283Cys
ENST00000612467.1:c.2327+9497C>T (PCDHGA3) ENSP00000481801.1:n.2327+9497C>T
ENST00000612927.1:c.847C>T (PCDHGA4) ENSP00000477894.1:p.Arg283Cys
NM_018912.2:c.2421+22849C>T (PCDHGA1) NP_061735.1:n.2421+22849C>T
NM_018915.3:c.2424+14559C>T (PCDHGA2) NP_061738.1:n.2424+14559C>T
NM_018916.3:c.2424+9497C>T (PCDHGA3) NP_061739.2:n.2424+9497C>T
NM_018917.3:c.847C>T (PCDHGA4) NP_061740.2:p.Arg283Cys
NM_018922.2:c.2409+3285C>T (PCDHGB1) NP_061745.1:n.2409+3285C>T
NM_032053.2:c.847C>T (PCDHGA4) NP_114442.2:p.Arg283Cys
NM_018915.4:c.2424+14559C>T (PCDHGA2) MANE Select NP_061738.1:n.2424+14559C>T
NM_018917.4:c.847C>T (PCDHGA4) MANE Select NP_061740.2:p.Arg283Cys
NM_018916.4:c.2424+9497C>T (PCDHGA3) MANE Select NP_061739.2:n.2424+9497C>T
NM_032053.3:c.847C>T (PCDHGA4) NP_114442.2:p.Arg283Cys
NM_018912.3:c.2421+22849C>T (PCDHGA1) MANE Select NP_061735.1:n.2421+22849C>T
NM_018922.3:c.2409+3285C>T (PCDHGB1) MANE Select NP_061745.1:n.2409+3285C>T