Canonical Allele Identifier: CA226504
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98838
ClinVar RCV Id: RCV000085164
dbSNP Id: rs62636302
MyVariant Identifiers: chr1:g.68896999T>C (hg19) chr1:g.68431316T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431316T>C , CM000663.2:g.68431316T>C GRCh38
NC_000001.10:g.68896999T>C , CM000663.1:g.68896999T>C GRCh37
NC_000001.9:g.68669587T>C NCBI36
NG_008472.1:g.23644A>G
NG_008472.2:g.23644A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1304A>G MANE Select ENSP00000262340.5:p.Tyr435Cys
ENST00000262340.5:c.1304A>G ENSP00000262340.5:p.Tyr435Cys
NM_000329.2:c.1304A>G NP_000320.1:p.Tyr435Cys
XM_017002027.1:c.1028A>G XP_016857516.1:p.Tyr343Cys
NM_000329.3:c.1304A>G MANE Select NP_000320.1:p.Tyr435Cys
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