Canonical Allele Identifier: CA377624618
Gene: PDE6C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93658926G>C , CM000672.2:g.93658926G>C GRCh38
NC_000010.10:g.95418683G>C , CM000672.1:g.95418683G>C GRCh37
NC_000010.9:g.95408673G>C NCBI36
NG_016752.1:g.51339G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371447.4:c.2062G>C MANE Select ENSP00000360502.3:p.Val688Leu
ENST00000371447.3:c.2062G>C ENSP00000360502.3:p.Val688Leu
NM_006204.3:c.2062G>C NP_006195.3:p.Val688Leu
NM_006204.4:c.2062G>C MANE Select NP_006195.3:p.Val688Leu