Canonical Allele Identifier: CA340747862
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 467827
ClinVar RCV Id: RCV000542372 RCV000754974 RCV003470756 RCV003767007
dbSNP Id: rs1191496583
gnomAD v2: 1-68910290-C-T
gnomAD v3: 1-68444607-C-T
gnomAD v4: 1-68444607-C-T
MyVariant Identifiers: chr1:g.68910290C>T (hg19) chr1:g.68444607C>T (hg38)
ERepo: CA340747862/MONDO:0100368/120
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444607C>T , CM000663.2:g.68444607C>T GRCh38
NC_000001.10:g.68910290C>T , CM000663.1:g.68910290C>T GRCh37
NC_000001.9:g.68682878C>T NCBI36
NG_008472.1:g.10353G>A
NG_008472.2:g.10353G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.419G>A MANE Select ENSP00000262340.5:p.Gly140Glu
ENST00000262340.5:c.419G>A ENSP00000262340.5:p.Gly140Glu
NM_000329.2:c.419G>A NP_000320.1:p.Gly140Glu
XM_017002027.1:c.143G>A XP_016857516.1:p.Gly48Glu
NM_000329.3:c.419G>A MANE Select NP_000320.1:p.Gly140Glu
Search 100 bp 5'
Search 100 bp 3'