Canonical Allele Identifier: CA226500
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 29873
ClinVar RCV Id: RCV000022754 RCV000085161 RCV001054426 RCV003317042
dbSNP Id: rs62636300
ExAC: 1:68897011 T / C
gnomAD v2: 1-68897011-T-C
gnomAD v4: 1-68431328-T-C
MyVariant Identifiers: chr1:g.68897011T>C (hg19) chr1:g.68431328T>C (hg38)
ERepo: CA226500/MONDO:0100368/120
PubMed: PMID:14962443
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431328T>C , CM000663.2:g.68431328T>C GRCh38
NC_000001.10:g.68897011T>C , CM000663.1:g.68897011T>C GRCh37
NC_000001.9:g.68669599T>C NCBI36
NG_008472.1:g.23632A>G
NG_008472.2:g.23632A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.1292A>G MANE Select ENSP00000262340.5:p.Tyr431Cys
ENST00000262340.5:c.1292A>G ENSP00000262340.5:p.Tyr431Cys
NM_000329.2:c.1292A>G NP_000320.1:p.Tyr431Cys
XM_017002027.1:c.1016A>G XP_016857516.1:p.Tyr339Cys
NM_000329.3:c.1292A>G MANE Select NP_000320.1:p.Tyr431Cys
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