Canonical Allele Identifier: CA340748969
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 987271
ClinVar RCV Id: RCV001268583
dbSNP Id: rs1645945363
MyVariant Identifiers: chr1:g.68912429A>G (hg19) chr1:g.68446746A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68446746A>G , CM000663.2:g.68446746A>G GRCh38
NC_000001.10:g.68912429A>G , CM000663.1:g.68912429A>G GRCh37
NC_000001.9:g.68685017A>G NCBI36
NG_008472.1:g.8214T>C
NG_008472.2:g.8214T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.209T>C MANE Select ENSP00000262340.5:p.Phe70Ser
ENST00000262340.5:c.209T>C ENSP00000262340.5:p.Phe70Ser
NM_000329.2:c.209T>C NP_000320.1:p.Phe70Ser
XM_017002027.1:c.-31-1863T>C XP_016857516.1:n.-31-1863T>C
NM_000329.3:c.209T>C MANE Select NP_000320.1:p.Phe70Ser
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