Canonical Allele Identifier: CA361382999

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141355568T>C , CM000667.2:g.141355568T>C GRCh38
NC_000005.9:g.140735135T>C , CM000667.1:g.140735135T>C GRCh37
NC_000005.8:g.140715319T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000517417.3:c.2421+22463T>C (PCDHGA1) MANE Select ENSP00000431083.1:n.2421+22463T>C
ENST00000523390.2:c.2409+2899T>C (PCDHGB1) MANE Select ENSP00000429273.1:n.2409+2899T>C
ENST00000253812.8:c.2424+9111T>C (PCDHGA3) MANE Select ENSP00000253812.7:n.2424+9111T>C
ENST00000394576.3:c.2424+14173T>C (PCDHGA2) MANE Select ENSP00000378077.2:n.2424+14173T>C
ENST00000571252.3:c.461T>C (PCDHGA4) MANE Select ENSP00000458570.2:p.Ile154Thr
ENST00000253812.7:c.2424+9111T>C (PCDHGA3) ENSP00000253812.6:n.2424+9111T>C
ENST00000394576.2:c.2424+14173T>C (PCDHGA2) ENSP00000378077.2:n.2424+14173T>C
ENST00000517417.2:c.2421+22463T>C (PCDHGA1) ENSP00000431083.1:n.2421+22463T>C
ENST00000523390.1:c.2409+2899T>C (PCDHGB1) ENSP00000429273.1:n.2409+2899T>C
ENST00000571252.2:c.461T>C (PCDHGA4) ENSP00000458570.2:p.Ile154Thr
ENST00000612467.1:c.2327+9111T>C (PCDHGA3) ENSP00000481801.1:n.2327+9111T>C
ENST00000612927.1:c.461T>C (PCDHGA4) ENSP00000477894.1:p.Ile154Thr
NM_018912.2:c.2421+22463T>C (PCDHGA1) NP_061735.1:n.2421+22463T>C
NM_018915.3:c.2424+14173T>C (PCDHGA2) NP_061738.1:n.2424+14173T>C
NM_018916.3:c.2424+9111T>C (PCDHGA3) NP_061739.2:n.2424+9111T>C
NM_018917.3:c.461T>C (PCDHGA4) NP_061740.2:p.Ile154Thr
NM_018922.2:c.2409+2899T>C (PCDHGB1) NP_061745.1:n.2409+2899T>C
NM_032053.2:c.461T>C (PCDHGA4) NP_114442.2:p.Ile154Thr
NM_018915.4:c.2424+14173T>C (PCDHGA2) MANE Select NP_061738.1:n.2424+14173T>C
NM_018917.4:c.461T>C (PCDHGA4) MANE Select NP_061740.2:p.Ile154Thr
NM_018916.4:c.2424+9111T>C (PCDHGA3) MANE Select NP_061739.2:n.2424+9111T>C
NM_032053.3:c.461T>C (PCDHGA4) NP_114442.2:p.Ile154Thr
NM_018912.3:c.2421+22463T>C (PCDHGA1) MANE Select NP_061735.1:n.2421+22463T>C
NM_018922.3:c.2409+2899T>C (PCDHGB1) MANE Select NP_061745.1:n.2409+2899T>C