Canonical Allele Identifier: CA1928723648
Gene: PDE6C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93663039G= , CM000672.2:g.93663039G= GRCh38
NC_000010.10:g.95422796G= , CM000672.1:g.95422796G= GRCh37
NC_000010.9:g.95412786G= NCBI36
NG_016752.1:g.55452G=

Transcript Alleles

HGVS Amino-acid change
ENST00000371447.4:c.2379G= MANE Select ENSP00000360502.3:p.Arg793=
ENST00000371447.3:c.2379G= ENSP00000360502.3:p.Arg793=
ENST00000475427.2:n.162+396G=
NM_006204.3:c.2379G= NP_006195.3:p.Arg793=
NM_006204.4:c.2379G= MANE Select NP_006195.3:p.Arg793=