Canonical Allele Identifier: CA340747768
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1452583
ClinVar RCV Id: RCV001999882
dbSNP Id: rs56021047
gnomAD v2: 1-68910277-G-C
gnomAD v3: 1-68444594-G-C
gnomAD v4: 1-68444594-G-C
COSMIC: COSM3977842
MyVariant Identifiers: chr1:g.68910277G>C (hg19) chr1:g.68444594G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444594G>C , CM000663.2:g.68444594G>C GRCh38
NC_000001.10:g.68910277G>C , CM000663.1:g.68910277G>C GRCh37
NC_000001.9:g.68682865G>C NCBI36
NG_008472.1:g.10366C>G
NG_008472.2:g.10366C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.432C>G MANE Select ENSP00000262340.5:p.Tyr144Ter
ENST00000262340.5:c.432C>G ENSP00000262340.5:p.Tyr144Ter
NM_000329.2:c.432C>G NP_000320.1:p.Tyr144Ter
XM_017002027.1:c.156C>G XP_016857516.1:p.Tyr52Ter
NM_000329.3:c.432C>G MANE Select NP_000320.1:p.Tyr144Ter
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