Canonical Allele Identifier: CA377628918
Gene: PDE6C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93663040T>A , CM000672.2:g.93663040T>A GRCh38
NC_000010.10:g.95422797T>A , CM000672.1:g.95422797T>A GRCh37
NC_000010.9:g.95412787T>A NCBI36
NG_016752.1:g.55453T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371447.4:c.2380T>A MANE Select ENSP00000360502.3:p.Phe794Ile
ENST00000371447.3:c.2380T>A ENSP00000360502.3:p.Phe794Ile
ENST00000475427.2:n.162+397T>A
NM_006204.3:c.2380T>A NP_006195.3:p.Phe794Ile
NM_006204.4:c.2380T>A MANE Select NP_006195.3:p.Phe794Ile