Canonical Allele Identifier: CA377631650
Gene: PDE6C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93626671T>C , CM000672.2:g.93626671T>C GRCh38
NC_000010.10:g.95386428T>C , CM000672.1:g.95386428T>C GRCh37
NC_000010.9:g.95376418T>C NCBI36
NG_016752.1:g.19084T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371447.4:c.971T>C MANE Select ENSP00000360502.3:p.Ile324Thr
ENST00000371447.3:c.971T>C ENSP00000360502.3:p.Ile324Thr
NM_006204.3:c.971T>C NP_006195.3:p.Ile324Thr
NM_006204.4:c.971T>C MANE Select NP_006195.3:p.Ile324Thr