Canonical Allele Identifier: CA377631639
Gene: PDE6C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93626670A>G , CM000672.2:g.93626670A>G GRCh38
NC_000010.10:g.95386427A>G , CM000672.1:g.95386427A>G GRCh37
NC_000010.9:g.95376417A>G NCBI36
NG_016752.1:g.19083A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371447.4:c.970A>G MANE Select ENSP00000360502.3:p.Ile324Val
ENST00000371447.3:c.970A>G ENSP00000360502.3:p.Ile324Val
NM_006204.3:c.970A>G NP_006195.3:p.Ile324Val
NM_006204.4:c.970A>G MANE Select NP_006195.3:p.Ile324Val