Canonical Allele Identifier: CA361339261
Gene: PCDHGA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141331051A>G , CM000667.2:g.141331051A>G GRCh38
NC_000005.9:g.140710618A>G , CM000667.1:g.140710618A>G GRCh37
NC_000005.8:g.140690802A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000517417.3:c.367A>G MANE Select ENSP00000431083.1:p.Ile123Val
ENST00000378105.4:c.367A>G ENSP00000367345.3:p.Ile123Val
ENST00000517417.2:c.367A>G ENSP00000431083.1:p.Ile123Val
NM_018912.2:c.367A>G NP_061735.1:p.Ile123Val
NM_031993.1:c.367A>G NP_114382.1:p.Ile123Val
NM_018912.3:c.367A>G MANE Select NP_061735.1:p.Ile123Val
NM_031993.2:c.367A>G NP_114382.1:p.Ile123Val