Canonical Allele Identifier: CA377624651
Gene: PDE6C HGNC NCBI

Linked Data

dbSNP Id: rs1299735838
gnomAD v3: 10-93658931-T-A
gnomAD v4: 10-93658931-T-A
MyVariant Identifiers: chr10:g.95418688T>A (hg19) chr10:g.93658931T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93658931T>A , CM000672.2:g.93658931T>A GRCh38
NC_000010.10:g.95418688T>A , CM000672.1:g.95418688T>A GRCh37
NC_000010.9:g.95408678T>A NCBI36
NG_016752.1:g.51344T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371447.4:c.2067T>A MANE Select ENSP00000360502.3:p.Asp689Glu
ENST00000371447.3:c.2067T>A ENSP00000360502.3:p.Asp689Glu
NM_006204.3:c.2067T>A NP_006195.3:p.Asp689Glu
NM_006204.4:c.2067T>A MANE Select NP_006195.3:p.Asp689Glu
Search 100 bp 5'
Search 100 bp 3'