Canonical Allele Identifier: CA1173557956
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1645823498
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431202C>G , CM000663.2:g.68431202C>G GRCh38
NC_000001.10:g.68896885C>G , CM000663.1:g.68896885C>G GRCh37
NC_000001.9:g.68669473C>G NCBI36
NG_008472.1:g.23758G>C
NG_008472.2:g.23758G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1339-26G>C MANE Select ENSP00000262340.5:n.1339-26G>C
ENST00000262340.5:c.1339-26G>C ENSP00000262340.5:n.1339-26G>C
NM_000329.2:c.1339-26G>C NP_000320.1:n.1339-26G>C
XM_017002027.1:c.1063-26G>C XP_016857516.1:n.1063-26G>C
NM_000329.3:c.1339-26G>C MANE Select NP_000320.1:n.1339-26G>C
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