Canonical Allele Identifier: CA361339262
Gene: PCDHGA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.140710618A>T (hg19) chr5:g.141331051A>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000517417.3:c.367A>T MANE Select ENSP00000431083.1:p.Ile123Leu
ENST00000378105.4:c.367A>T ENSP00000367345.3:p.Ile123Leu
ENST00000517417.2:c.367A>T ENSP00000431083.1:p.Ile123Leu
NM_018912.2:c.367A>T NP_061735.1:p.Ile123Leu
NM_031993.1:c.367A>T NP_114382.1:p.Ile123Leu
NM_018912.3:c.367A>T MANE Select NP_061735.1:p.Ile123Leu
NM_031993.2:c.367A>T NP_114382.1:p.Ile123Leu
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