Canonical Allele Identifier: CA670082341
Gene: PDE6C HGNC NCBI

Linked Data

dbSNP Id: rs1263498760
gnomAD v4: 10-93662931-T-G
MyVariant Identifiers: chr10:g.95422688T>G (hg19) chr10:g.93662931T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93662931T>G , CM000672.2:g.93662931T>G GRCh38
NC_000010.10:g.95422688T>G , CM000672.1:g.95422688T>G GRCh37
NC_000010.9:g.95412678T>G NCBI36
NG_016752.1:g.55344T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371447.4:c.2368-97T>G MANE Select ENSP00000360502.3:n.2368-97T>G
ENST00000371447.3:c.2368-97T>G ENSP00000360502.3:n.2368-97T>G
ENST00000475427.2:n.162+288T>G
NM_006204.3:c.2368-97T>G NP_006195.3:n.2368-97T>G
NM_006204.4:c.2368-97T>G MANE Select NP_006195.3:n.2368-97T>G
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