Canonical Allele Identifier: CA377631628
Gene: PDE6C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93626668A>C , CM000672.2:g.93626668A>C GRCh38
NC_000010.10:g.95386425A>C , CM000672.1:g.95386425A>C GRCh37
NC_000010.9:g.95376415A>C NCBI36
NG_016752.1:g.19081A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371447.4:c.968A>C MANE Select ENSP00000360502.3:p.Tyr323Ser
ENST00000371447.3:c.968A>C ENSP00000360502.3:p.Tyr323Ser
NM_006204.3:c.968A>C NP_006195.3:p.Tyr323Ser
NM_006204.4:c.968A>C MANE Select NP_006195.3:p.Tyr323Ser