Canonical Allele Identifier: CA470795949
Gene: PDE6C HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.95386430T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93626673T>C , CM000672.2:g.93626673T>C GRCh38
NC_000010.10:g.95386430T>C , CM000672.1:g.95386430T>C GRCh37
NC_000010.9:g.95376420T>C NCBI36
NG_016752.1:g.19086T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371447.4:c.973T>C MANE Select ENSP00000360502.3:p.Leu325=
ENST00000371447.3:c.973T>C ENSP00000360502.3:p.Leu325=
NM_006204.3:c.973T>C NP_006195.3:p.Leu325=
NM_006204.4:c.973T>C MANE Select NP_006195.3:p.Leu325=