Canonical Allele Identifier: CA2646150292
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs755771907
gnomAD v4: 1-68431457-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431457C>G , CM000663.2:g.68431457C>G GRCh38
NC_000001.10:g.68897140C>G , CM000663.1:g.68897140C>G GRCh37
NC_000001.9:g.68669728C>G NCBI36
NG_008472.1:g.23503G>C
NG_008472.2:g.23503G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1243+14G>C MANE Select ENSP00000262340.5:n.1243+14G>C
ENST00000262340.5:c.1243+14G>C ENSP00000262340.5:n.1243+14G>C
NM_000329.2:c.1243+14G>C NP_000320.1:n.1243+14G>C
XM_017002027.1:c.967+14G>C XP_016857516.1:n.967+14G>C
NM_000329.3:c.1243+14G>C MANE Select NP_000320.1:n.1243+14G>C
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