Canonical Allele Identifier: CA377629224
Gene: PDE6C HGNC NCBI

Linked Data

ClinVar Variation Id: 438113
ClinVar RCV Id: RCV000504974 RCV001353003
dbSNP Id: rs1023522305
gnomAD v4: 10-93622073-G-A
MyVariant Identifiers: chr10:g.95381830G>A (hg19) chr10:g.93622073G>A (hg38)
PubMed: PMID:28041643
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93622073G>A , CM000672.2:g.93622073G>A GRCh38
NC_000010.10:g.95381830G>A , CM000672.1:g.95381830G>A GRCh37
NC_000010.9:g.95371820G>A NCBI36
NG_016752.1:g.14486G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371447.4:c.864+1G>A MANE Select ENSP00000360502.3:n.864+1G>A
ENST00000371447.3:c.864+1G>A ENSP00000360502.3:n.864+1G>A
NM_006204.3:c.864+1G>A NP_006195.3:n.864+1G>A
NM_006204.4:c.864+1G>A MANE Select NP_006195.3:n.864+1G>A
Search 100 bp 5'
Search 100 bp 3'