Canonical Allele Identifier: CA470795193
Gene: PDE6C HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.95422794C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93663037C>A , CM000672.2:g.93663037C>A GRCh38
NC_000010.10:g.95422794C>A , CM000672.1:g.95422794C>A GRCh37
NC_000010.9:g.95412784C>A NCBI36
NG_016752.1:g.55450C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371447.4:c.2377C>A MANE Select ENSP00000360502.3:p.Arg793=
ENST00000371447.3:c.2377C>A ENSP00000360502.3:p.Arg793=
ENST00000475427.2:n.162+394C>A
NM_006204.3:c.2377C>A NP_006195.3:p.Arg793=
NM_006204.4:c.2377C>A MANE Select NP_006195.3:p.Arg793=