Canonical Allele Identifier: CA470795947
Gene: PDE6C HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.95386429T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93626672T>A , CM000672.2:g.93626672T>A GRCh38
NC_000010.10:g.95386429T>A , CM000672.1:g.95386429T>A GRCh37
NC_000010.9:g.95376419T>A NCBI36
NG_016752.1:g.19085T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371447.4:c.972T>A MANE Select ENSP00000360502.3:p.Ile324=
ENST00000371447.3:c.972T>A ENSP00000360502.3:p.Ile324=
NM_006204.3:c.972T>A NP_006195.3:p.Ile324=
NM_006204.4:c.972T>A MANE Select NP_006195.3:p.Ile324=