Canonical Allele Identifier: CA2740090758
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 2951873
ClinVar RCV Id: RCV003812560
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444687G>A , CM000663.2:g.68444687G>A GRCh38
NC_000001.10:g.68910370G>A , CM000663.1:g.68910370G>A GRCh37
NC_000001.9:g.68682958G>A NCBI36
NG_008472.1:g.10273C>T
NG_008472.2:g.10273C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.354-15C>T MANE Select ENSP00000262340.5:n.354-15C>T
ENST00000262340.5:c.354-15C>T ENSP00000262340.5:n.354-15C>T
NM_000329.2:c.354-15C>T NP_000320.1:n.354-15C>T
XM_017002027.1:c.78-15C>T XP_016857516.1:n.78-15C>T
NM_000329.3:c.354-15C>T MANE Select NP_000320.1:n.354-15C>T
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