Canonical Allele Identifier: CA470795186
Gene: PDE6C HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.95422787G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93663030G>A , CM000672.2:g.93663030G>A GRCh38
NC_000010.10:g.95422787G>A , CM000672.1:g.95422787G>A GRCh37
NC_000010.9:g.95412777G>A NCBI36
NG_016752.1:g.55443G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371447.4:c.2370G>A MANE Select ENSP00000360502.3:p.Glu790=
ENST00000371447.3:c.2370G>A ENSP00000360502.3:p.Glu790=
ENST00000475427.2:n.162+387G>A
NM_006204.3:c.2370G>A NP_006195.3:p.Glu790=
NM_006204.4:c.2370G>A MANE Select NP_006195.3:p.Glu790=