Canonical Allele Identifier: CA470795187
Gene: PDE6C HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.95422790C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93663033C>T , CM000672.2:g.93663033C>T GRCh38
NC_000010.10:g.95422790C>T , CM000672.1:g.95422790C>T GRCh37
NC_000010.9:g.95412780C>T NCBI36
NG_016752.1:g.55446C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371447.4:c.2373C>T MANE Select ENSP00000360502.3:p.Phe791=
ENST00000371447.3:c.2373C>T ENSP00000360502.3:p.Phe791=
ENST00000475427.2:n.162+390C>T
NM_006204.3:c.2373C>T NP_006195.3:p.Phe791=
NM_006204.4:c.2373C>T MANE Select NP_006195.3:p.Phe791=