Canonical Allele Identifier: CA340748990
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1343988525
gnomAD v2: 1-68912433-T-C
gnomAD v3: 1-68446750-T-C
gnomAD v4: 1-68446750-T-C
MyVariant Identifiers: chr1:g.68912433T>C (hg19) chr1:g.68446750T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68446750T>C , CM000663.2:g.68446750T>C GRCh38
NC_000001.10:g.68912433T>C , CM000663.1:g.68912433T>C GRCh37
NC_000001.9:g.68685021T>C NCBI36
NG_008472.1:g.8210A>G
NG_008472.2:g.8210A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.205A>G MANE Select ENSP00000262340.5:p.Lys69Glu
ENST00000262340.5:c.205A>G ENSP00000262340.5:p.Lys69Glu
NM_000329.2:c.205A>G NP_000320.1:p.Lys69Glu
XM_017002027.1:c.-31-1867A>G XP_016857516.1:n.-31-1867A>G
NM_000329.3:c.205A>G MANE Select NP_000320.1:p.Lys69Glu
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