Canonical Allele Identifier: CA470795189
Gene: PDE6C HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.95422793A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93663036A>C , CM000672.2:g.93663036A>C GRCh38
NC_000010.10:g.95422793A>C , CM000672.1:g.95422793A>C GRCh37
NC_000010.9:g.95412783A>C NCBI36
NG_016752.1:g.55449A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371447.4:c.2376A>C MANE Select ENSP00000360502.3:p.Ser792=
ENST00000371447.3:c.2376A>C ENSP00000360502.3:p.Ser792=
ENST00000475427.2:n.162+393A>C
NM_006204.3:c.2376A>C NP_006195.3:p.Ser792=
NM_006204.4:c.2376A>C MANE Select NP_006195.3:p.Ser792=