Canonical Allele Identifier: CA361339265
Gene: PCDHGA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.140710619T>C (hg19) chr5:g.141331052T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141331052T>C , CM000667.2:g.141331052T>C GRCh38
NC_000005.9:g.140710619T>C , CM000667.1:g.140710619T>C GRCh37
NC_000005.8:g.140690803T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000517417.3:c.368T>C MANE Select ENSP00000431083.1:p.Ile123Thr
ENST00000378105.4:c.368T>C ENSP00000367345.3:p.Ile123Thr
ENST00000517417.2:c.368T>C ENSP00000431083.1:p.Ile123Thr
NM_018912.2:c.368T>C NP_061735.1:p.Ile123Thr
NM_031993.1:c.368T>C NP_114382.1:p.Ile123Thr
NM_018912.3:c.368T>C MANE Select NP_061735.1:p.Ile123Thr
NM_031993.2:c.368T>C NP_114382.1:p.Ile123Thr
Search 100 bp 5'
Search 100 bp 3'