Canonical Allele Identifier: CA5610141
Gene: PDE6C HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.93635490A>G
GRCh37 chr10:g.95395247A>G
gnomAD v2:
10:95395247 A / G
gnomAD v3:
10:93635490 A / G
gnomAD v4:
chr10-93635490-A-G
Joint Max Group AF 0.82263082 (SAS)
Genomes Max Group AF 0.8060083 (SAS)
Exomes Max Group AF 0.82250168 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93635490A>G , CM000672.2:g.93635490A>G GRCh38
NC_000010.10:g.95395247A>G , CM000672.1:g.95395247A>G GRCh37
NC_000010.9:g.95385237A>G NCBI36
NG_016752.1:g.27903A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371447.4:c.1270-7A>G MANE Select ENSP00000360502.3:n.1270-7A>G
ENST00000371447.3:c.1270-7A>G ENSP00000360502.3:n.1270-7A>G
NM_006204.3:c.1270-7A>G NP_006195.3:n.1270-7A>G
NM_006204.4:c.1270-7A>G MANE Select NP_006195.3:n.1270-7A>G
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