Canonical Allele Identifier: CA1587147994
Gene: PCDHGA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141331040T= , CM000667.2:g.141331040T= GRCh38
NC_000005.9:g.140710607T= , CM000667.1:g.140710607T= GRCh37
NC_000005.8:g.140690791T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000517417.3:c.356T= MANE Select ENSP00000431083.1:p.Val119=
ENST00000378105.4:c.356T= ENSP00000367345.3:p.Val119=
ENST00000517417.2:c.356T= ENSP00000431083.1:p.Val119=
NM_018912.2:c.356T= NP_061735.1:p.Val119=
NM_031993.1:c.356T= NP_114382.1:p.Val119=
NM_018912.3:c.356T= MANE Select NP_061735.1:p.Val119=
NM_031993.2:c.356T= NP_114382.1:p.Val119=