Canonical Allele Identifier: CA377628885
Gene: PDE6C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93663034T>G , CM000672.2:g.93663034T>G GRCh38
NC_000010.10:g.95422791T>G , CM000672.1:g.95422791T>G GRCh37
NC_000010.9:g.95412781T>G NCBI36
NG_016752.1:g.55447T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371447.4:c.2374T>G MANE Select ENSP00000360502.3:p.Ser792Ala
ENST00000371447.3:c.2374T>G ENSP00000360502.3:p.Ser792Ala
ENST00000475427.2:n.162+391T>G
NM_006204.3:c.2374T>G NP_006195.3:p.Ser792Ala
NM_006204.4:c.2374T>G MANE Select NP_006195.3:p.Ser792Ala