Canonical Allele Identifier: CA377631671
Gene: PDE6C HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.95386432A>C (hg19) chr10:g.93626675A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93626675A>C , CM000672.2:g.93626675A>C GRCh38
NC_000010.10:g.95386432A>C , CM000672.1:g.95386432A>C GRCh37
NC_000010.9:g.95376422A>C NCBI36
NG_016752.1:g.19088A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371447.4:c.975A>C MANE Select ENSP00000360502.3:p.Leu325Phe
ENST00000371447.3:c.975A>C ENSP00000360502.3:p.Leu325Phe
NM_006204.3:c.975A>C NP_006195.3:p.Leu325Phe
NM_006204.4:c.975A>C MANE Select NP_006195.3:p.Leu325Phe
Search 100 bp 5'
Search 100 bp 3'