Canonical Allele Identifier: CA340744434
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1002701
ClinVar RCV Id: RCV001299163
dbSNP Id: rs1645875407
gnomAD v4: 1-68438302-T-C
MyVariant Identifiers: chr1:g.68903985T>C (hg19) chr1:g.68438302T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68438302T>C , CM000663.2:g.68438302T>C GRCh38
NC_000001.10:g.68903985T>C , CM000663.1:g.68903985T>C GRCh37
NC_000001.9:g.68676573T>C NCBI36
NG_008472.1:g.16658A>G
NG_008472.2:g.16658A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1013A>G MANE Select ENSP00000262340.5:p.Tyr338Cys
ENST00000262340.5:c.1013A>G ENSP00000262340.5:p.Tyr338Cys
NM_000329.2:c.1013A>G NP_000320.1:p.Tyr338Cys
XM_017002027.1:c.737A>G XP_016857516.1:p.Tyr246Cys
NM_000329.3:c.1013A>G MANE Select NP_000320.1:p.Tyr338Cys
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