Canonical Allele Identifier: CA361339129

Gene: PCDHGA1

Linked Data

• MyVariant Identifiers: chr5:g.140710606G>T (hg19) ; chr5:g.141331039G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000517417.3:c.355G>T MANE Select	ENSP00000431083.1:p.Val119Phe
ENST00000378105.4:c.355G>T	ENSP00000367345.3:p.Val119Phe
ENST00000517417.2:c.355G>T	ENSP00000431083.1:p.Val119Phe
NM_018912.2:c.355G>T	NP_061735.1:p.Val119Phe
NM_031993.1:c.355G>T	NP_114382.1:p.Val119Phe
NM_018912.3:c.355G>T MANE Select	NP_061735.1:p.Val119Phe
NM_031993.2:c.355G>T	NP_114382.1:p.Val119Phe