Canonical Allele Identifier: CA340748038
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1066312
ClinVar RCV Id: RCV001377276
dbSNP Id: rs2100827985
MyVariant Identifiers: chr1:g.68910356C>T (hg19) chr1:g.68444673C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444673C>T , CM000663.2:g.68444673C>T GRCh38
NC_000001.10:g.68910356C>T , CM000663.1:g.68910356C>T GRCh37
NC_000001.9:g.68682944C>T NCBI36
NG_008472.1:g.10287G>A
NG_008472.2:g.10287G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.354-1G>A MANE Select ENSP00000262340.5:n.354-1G>A
ENST00000262340.5:c.354-1G>A ENSP00000262340.5:n.354-1G>A
NM_000329.2:c.354-1G>A NP_000320.1:n.354-1G>A
XM_017002027.1:c.78-1G>A XP_016857516.1:n.78-1G>A
NM_000329.3:c.354-1G>A MANE Select NP_000320.1:n.354-1G>A
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