Canonical Allele Identifier: CA361339127
Gene: PCDHGA1 HGNC NCBI

Linked Data

dbSNP Id: rs1564080019
MyVariant Identifiers: chr5:g.140710606G>A (hg19) chr5:g.141331039G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141331039G>A , CM000667.2:g.141331039G>A GRCh38
NC_000005.9:g.140710606G>A , CM000667.1:g.140710606G>A GRCh37
NC_000005.8:g.140690790G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000517417.3:c.355G>A MANE Select ENSP00000431083.1:p.Val119Ile
ENST00000378105.4:c.355G>A ENSP00000367345.3:p.Val119Ile
ENST00000517417.2:c.355G>A ENSP00000431083.1:p.Val119Ile
NM_018912.2:c.355G>A NP_061735.1:p.Val119Ile
NM_031993.1:c.355G>A NP_114382.1:p.Val119Ile
NM_018912.3:c.355G>A MANE Select NP_061735.1:p.Val119Ile
NM_031993.2:c.355G>A NP_114382.1:p.Val119Ile
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