Canonical Allele Identifier: CA470795950
Gene: PDE6C HGNC NCBI

Linked Data

gnomAD v4: 10-93626675-A-G
MyVariant Identifiers: chr10:g.95386432A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93626675A>G , CM000672.2:g.93626675A>G GRCh38
NC_000010.10:g.95386432A>G , CM000672.1:g.95386432A>G GRCh37
NC_000010.9:g.95376422A>G NCBI36
NG_016752.1:g.19088A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371447.4:c.975A>G MANE Select ENSP00000360502.3:p.Leu325=
ENST00000371447.3:c.975A>G ENSP00000360502.3:p.Leu325=
NM_006204.3:c.975A>G NP_006195.3:p.Leu325=
NM_006204.4:c.975A>G MANE Select NP_006195.3:p.Leu325=
Search 100 bp 5'
Search 100 bp 3'