Canonical Allele Identifier: CA377631641
Gene: PDE6C HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000371447.4:c.970A>T MANE Select ENSP00000360502.3:p.Ile324Phe
ENST00000371447.3:c.970A>T ENSP00000360502.3:p.Ile324Phe
NM_006204.3:c.970A>T NP_006195.3:p.Ile324Phe
NM_006204.4:c.970A>T MANE Select NP_006195.3:p.Ile324Phe