Canonical Allele Identifier: CA447045439

Gene: PCDHGA1

Linked Data

• gnomAD v4: 5-141331047-A-G
• MyVariant Identifiers: chr5:g.140710614A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141331047A>G , CM000667.2:g.141331047A>G	GRCh38
NC_000005.9:g.140710614A>G , CM000667.1:g.140710614A>G	GRCh37
NC_000005.8:g.140690798A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000517417.3:c.363A>G MANE Select	ENSP00000431083.1:p.Val121=
ENST00000378105.4:c.363A>G	ENSP00000367345.3:p.Val121=
ENST00000517417.2:c.363A>G	ENSP00000431083.1:p.Val121=
NM_018912.2:c.363A>G	NP_061735.1:p.Val121=
NM_031993.1:c.363A>G	NP_114382.1:p.Val121=
NM_018912.3:c.363A>G MANE Select	NP_061735.1:p.Val121=
NM_031993.2:c.363A>G	NP_114382.1:p.Val121=