Canonical Allele Identifier: CA377624597
Gene: PDE6C HGNC NCBI

Linked Data

dbSNP Id: rs2058653371
MyVariant Identifiers: chr10:g.95418680A>G (hg19) chr10:g.93658923A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93658923A>G , CM000672.2:g.93658923A>G GRCh38
NC_000010.10:g.95418680A>G , CM000672.1:g.95418680A>G GRCh37
NC_000010.9:g.95408670A>G NCBI36
NG_016752.1:g.51336A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371447.4:c.2059A>G MANE Select ENSP00000360502.3:p.Ile687Val
ENST00000371447.3:c.2059A>G ENSP00000360502.3:p.Ile687Val
NM_006204.3:c.2059A>G NP_006195.3:p.Ile687Val
NM_006204.4:c.2059A>G MANE Select NP_006195.3:p.Ile687Val
Search 100 bp 5'
Search 100 bp 3'