Canonical Allele Identifier: CA418279061
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 427868
ClinVar RCV Id: RCV000515747 RCV001865522 RCV002248718 RCV004527377
dbSNP Id: rs1553152989
MyVariant Identifiers: chr1:g.68903897T>C (hg19) chr1:g.68438214T>C (hg38)
ERepo: CA418279061/MONDO:0100368/120
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68438214T>C , CM000663.2:g.68438214T>C GRCh38
NC_000001.10:g.68903897T>C , CM000663.1:g.68903897T>C GRCh37
NC_000001.9:g.68676485T>C NCBI36
NG_008472.1:g.16746A>G
NG_008472.2:g.16746A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1101A>G MANE Select ENSP00000262340.5:p.Arg367=
ENST00000262340.5:c.1101A>G ENSP00000262340.5:p.Arg367=
NM_000329.2:c.1101A>G NP_000320.1:p.Arg367=
XM_017002027.1:c.825A>G XP_016857516.1:p.Arg275=
NM_000329.3:c.1101A>G MANE Select NP_000320.1:p.Arg367=
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Search 100 bp 3'