Canonical Allele Identifier: CA470794503
Gene: PDE6C HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.95418691C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93658934C>T , CM000672.2:g.93658934C>T GRCh38
NC_000010.10:g.95418691C>T , CM000672.1:g.95418691C>T GRCh37
NC_000010.9:g.95408681C>T NCBI36
NG_016752.1:g.51347C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371447.4:c.2070C>T MANE Select ENSP00000360502.3:p.Ala690=
ENST00000371447.3:c.2070C>T ENSP00000360502.3:p.Ala690=
NM_006204.3:c.2070C>T NP_006195.3:p.Ala690=
NM_006204.4:c.2070C>T MANE Select NP_006195.3:p.Ala690=