Canonical Allele Identifier: CA3470226

Gene: PCDHGA1 PCDHGA5 PCDHGB2 PCDHGB1 PCDHGA3 PCDHGA2 PCDHGA4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141365744T>A , CM000667.2:g.141365744T>A	GRCh38
NC_000005.9:g.140745311T>A , CM000667.1:g.140745311T>A	GRCh37
NC_000005.8:g.140725495T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517417.3:c.2421+32639T>A (PCDHGA1) MANE Select	ENSP00000431083.1:n.2421+32639T>A
ENST00000518069.2:c.1414T>A (PCDHGA5) MANE Select	ENSP00000429834.1:p.Phe472Ile
ENST00000522605.2:c.2421+3188T>A (PCDHGB2) MANE Select	ENSP00000429018.1:n.2421+3188T>A
ENST00000523390.2:c.2409+13075T>A (PCDHGB1) MANE Select	ENSP00000429273.1:n.2409+13075T>A
ENST00000253812.8:c.2424+19287T>A (PCDHGA3) MANE Select	ENSP00000253812.7:n.2424+19287T>A
ENST00000394576.3:c.2424+24349T>A (PCDHGA2) MANE Select	ENSP00000378077.2:n.2424+24349T>A
ENST00000571252.3:c.2514+8123T>A (PCDHGA4) MANE Select	ENSP00000458570.2:n.2514+8123T>A
ENST00000253812.7:c.2424+19287T>A (PCDHGA3)	ENSP00000253812.6:n.2424+19287T>A
ENST00000394576.2:c.2424+24349T>A (PCDHGA2)	ENSP00000378077.2:n.2424+24349T>A
ENST00000517417.2:c.2421+32639T>A (PCDHGA1)	ENSP00000431083.1:n.2421+32639T>A
ENST00000518069.1:c.1414T>A (PCDHGA5)	ENSP00000429834.1:p.Phe472Ile
ENST00000522605.1:c.2421+3188T>A (PCDHGB2)	ENSP00000429018.1:n.2421+3188T>A
ENST00000523390.1:c.2409+13075T>A (PCDHGB1)	ENSP00000429273.1:n.2409+13075T>A
ENST00000571252.2:c.2514+8123T>A (PCDHGA4)	ENSP00000458570.2:n.2514+8123T>A
ENST00000611914.1:c.1414T>A (PCDHGA5)	ENSP00000480337.1:p.Phe472Ile
ENST00000612467.1:c.2327+19287T>A (PCDHGA3)	ENSP00000481801.1:n.2327+19287T>A
NM_018912.2:c.2421+32639T>A (PCDHGA1)	NP_061735.1:n.2421+32639T>A
NM_018915.3:c.2424+24349T>A (PCDHGA2)	NP_061738.1:n.2424+24349T>A
NM_018916.3:c.2424+19287T>A (PCDHGA3)	NP_061739.2:n.2424+19287T>A
NM_018917.3:c.2514+8123T>A (PCDHGA4)	NP_061740.2:n.2514+8123T>A
NM_018918.2:c.1414T>A (PCDHGA5)	NP_061741.1:p.Phe472Ile
NM_018922.2:c.2409+13075T>A (PCDHGB1)	NP_061745.1:n.2409+13075T>A
NM_018923.2:c.2421+3188T>A (PCDHGB2)	NP_061746.1:n.2421+3188T>A
NM_032054.1:c.1414T>A (PCDHGA5)	NP_114443.1:p.Phe472Ile
NM_018915.4:c.2424+24349T>A (PCDHGA2) MANE Select	NP_061738.1:n.2424+24349T>A
NM_018917.4:c.2514+8123T>A (PCDHGA4) MANE Select	NP_061740.2:n.2514+8123T>A
NM_018916.4:c.2424+19287T>A (PCDHGA3) MANE Select	NP_061739.2:n.2424+19287T>A
NM_018912.3:c.2421+32639T>A (PCDHGA1) MANE Select	NP_061735.1:n.2421+32639T>A
NM_018918.3:c.1414T>A (PCDHGA5) MANE Select	NP_061741.1:p.Phe472Ile
NM_018922.3:c.2409+13075T>A (PCDHGB1) MANE Select	NP_061745.1:n.2409+13075T>A
NM_018923.3:c.2421+3188T>A (PCDHGB2) MANE Select	NP_061746.1:n.2421+3188T>A
NM_032054.2:c.1414T>A (PCDHGA5)	NP_114443.1:p.Phe472Ile