Canonical Allele Identifier: CA340742276
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1065765
ClinVar RCV Id: RCV001376477
dbSNP Id: rs2100807072
MyVariant Identifiers: chr1:g.68896850G>C (hg19) chr1:g.68431167G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431167G>C , CM000663.2:g.68431167G>C GRCh38
NC_000001.10:g.68896850G>C , CM000663.1:g.68896850G>C GRCh37
NC_000001.9:g.68669438G>C NCBI36
NG_008472.1:g.23793C>G
NG_008472.2:g.23793C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1348C>G MANE Select ENSP00000262340.5:p.Leu450Val
ENST00000262340.5:c.1348C>G ENSP00000262340.5:p.Leu450Val
NM_000329.2:c.1348C>G NP_000320.1:p.Leu450Val
XM_017002027.1:c.1072C>G XP_016857516.1:p.Leu358Val
NM_000329.3:c.1348C>G MANE Select NP_000320.1:p.Leu450Val
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