Canonical Allele Identifier: CA1002830298
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1645825245
gnomAD v3: 1-68431428-C-T
gnomAD v4: 1-68431428-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431428C>T , CM000663.2:g.68431428C>T GRCh38
NC_000001.10:g.68897111C>T , CM000663.1:g.68897111C>T GRCh37
NC_000001.9:g.68669699C>T NCBI36
NG_008472.1:g.23532G>A
NG_008472.2:g.23532G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1243+43G>A MANE Select ENSP00000262340.5:n.1243+43G>A
ENST00000262340.5:c.1243+43G>A ENSP00000262340.5:n.1243+43G>A
NM_000329.2:c.1243+43G>A NP_000320.1:n.1243+43G>A
XM_017002027.1:c.967+43G>A XP_016857516.1:n.967+43G>A
NM_000329.3:c.1243+43G>A MANE Select NP_000320.1:n.1243+43G>A
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