Canonical Allele Identifier: CA902581
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs774650221
ExAC: 1:68912431 C / T
gnomAD v2: 1-68912431-C-T
gnomAD v4: 1-68446748-C-T
MyVariant Identifiers: chr1:g.68912431C>T (hg19) chr1:g.68446748C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68446748C>T , CM000663.2:g.68446748C>T GRCh38
NC_000001.10:g.68912431C>T , CM000663.1:g.68912431C>T GRCh37
NC_000001.9:g.68685019C>T NCBI36
NG_008472.1:g.8212G>A
NG_008472.2:g.8212G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.207G>A MANE Select ENSP00000262340.5:p.Lys69=
ENST00000262340.5:c.207G>A ENSP00000262340.5:p.Lys69=
NM_000329.2:c.207G>A NP_000320.1:p.Lys69=
XM_017002027.1:c.-31-1865G>A XP_016857516.1:n.-31-1865G>A
NM_000329.3:c.207G>A MANE Select NP_000320.1:p.Lys69=
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