Canonical Allele Identifier: CA361339244
Gene: PCDHGA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141331049A>C , CM000667.2:g.141331049A>C GRCh38
NC_000005.9:g.140710616A>C , CM000667.1:g.140710616A>C GRCh37
NC_000005.8:g.140690800A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000517417.3:c.365A>C MANE Select ENSP00000431083.1:p.Glu122Ala
ENST00000378105.4:c.365A>C ENSP00000367345.3:p.Glu122Ala
ENST00000517417.2:c.365A>C ENSP00000431083.1:p.Glu122Ala
NM_018912.2:c.365A>C NP_061735.1:p.Glu122Ala
NM_031993.1:c.365A>C NP_114382.1:p.Glu122Ala
NM_018912.3:c.365A>C MANE Select NP_061735.1:p.Glu122Ala
NM_031993.2:c.365A>C NP_114382.1:p.Glu122Ala