Canonical Allele Identifier: CA285813
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98841
ClinVar RCV Id: RCV000085167 RCV000212978 RCV000665902 RCV001533574 RCV001533575
dbSNP Id: rs12564647
ExAC: 1:68896945 T / G
gnomAD v2: 1-68896945-T-G
gnomAD v3: 1-68431262-T-G
gnomAD v4: 1-68431262-T-G
MyVariant Identifiers: chr1:g.68896945T>G (hg19) chr1:g.68431262T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431262T>G , CM000663.2:g.68431262T>G GRCh38
NC_000001.10:g.68896945T>G , CM000663.1:g.68896945T>G GRCh37
NC_000001.9:g.68669533T>G NCBI36
NG_008472.1:g.23698A>C
NG_008472.2:g.23698A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1338+20A>C MANE Select ENSP00000262340.5:n.1338+20A>C
ENST00000262340.5:c.1338+20A>C ENSP00000262340.5:n.1338+20A>C
NM_000329.2:c.1338+20A>C NP_000320.1:n.1338+20A>C
XM_017002027.1:c.1062+20A>C XP_016857516.1:n.1062+20A>C
NM_000329.3:c.1338+20A>C MANE Select NP_000320.1:n.1338+20A>C
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