Canonical Allele Identifier: CA377631707
Gene: PDE6C HGNC NCBI

Linked Data

ClinVar Variation Id: 1063739
ClinVar RCV Id: RCV001373606
dbSNP Id: rs2134599230
gnomAD v4: 10-93626680-G-A
MyVariant Identifiers: chr10:g.95386437G>A (hg19) chr10:g.93626680G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93626680G>A , CM000672.2:g.93626680G>A GRCh38
NC_000010.10:g.95386437G>A , CM000672.1:g.95386437G>A GRCh37
NC_000010.9:g.95376427G>A NCBI36
NG_016752.1:g.19093G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371447.4:c.980G>A MANE Select ENSP00000360502.3:p.Gly327Glu
ENST00000371447.3:c.980G>A ENSP00000360502.3:p.Gly327Glu
NM_006204.3:c.980G>A NP_006195.3:p.Gly327Glu
NM_006204.4:c.980G>A MANE Select NP_006195.3:p.Gly327Glu
Search 100 bp 5'
Search 100 bp 3'