Canonical Allele Identifier: CA361339192
Gene: PCDHGA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141331045G>A , CM000667.2:g.141331045G>A GRCh38
NC_000005.9:g.140710612G>A , CM000667.1:g.140710612G>A GRCh37
NC_000005.8:g.140690796G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000517417.3:c.361G>A MANE Select ENSP00000431083.1:p.Val121Ile
ENST00000378105.4:c.361G>A ENSP00000367345.3:p.Val121Ile
ENST00000517417.2:c.361G>A ENSP00000431083.1:p.Val121Ile
NM_018912.2:c.361G>A NP_061735.1:p.Val121Ile
NM_031993.1:c.361G>A NP_114382.1:p.Val121Ile
NM_018912.3:c.361G>A MANE Select NP_061735.1:p.Val121Ile
NM_031993.2:c.361G>A NP_114382.1:p.Val121Ile