Canonical Allele Identifier: CA447044730
Gene: PCDHGA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.140710707C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141331140C>A , CM000667.2:g.141331140C>A GRCh38
NC_000005.9:g.140710707C>A , CM000667.1:g.140710707C>A GRCh37
NC_000005.8:g.140690891C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000517417.3:c.456C>A MANE Select ENSP00000431083.1:p.Val152=
ENST00000378105.4:c.456C>A ENSP00000367345.3:p.Val152=
ENST00000517417.2:c.456C>A ENSP00000431083.1:p.Val152=
NM_018912.2:c.456C>A NP_061735.1:p.Val152=
NM_031993.1:c.456C>A NP_114382.1:p.Val152=
NM_018912.3:c.456C>A MANE Select NP_061735.1:p.Val152=
NM_031993.2:c.456C>A NP_114382.1:p.Val152=