Canonical Allele Identifier: CA377631705
Gene: PDE6C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93626679G>A , CM000672.2:g.93626679G>A GRCh38
NC_000010.10:g.95386436G>A , CM000672.1:g.95386436G>A GRCh37
NC_000010.9:g.95376426G>A NCBI36
NG_016752.1:g.19092G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371447.4:c.979G>A MANE Select ENSP00000360502.3:p.Gly327Arg
ENST00000371447.3:c.979G>A ENSP00000360502.3:p.Gly327Arg
NM_006204.3:c.979G>A NP_006195.3:p.Gly327Arg
NM_006204.4:c.979G>A MANE Select NP_006195.3:p.Gly327Arg