Canonical Allele Identifier: CA226548
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98867
ClinVar RCV Id: RCV000085197 RCV001081695 RCV001102526 RCV001102525 RCV001275331 RCV004527313
dbSNP Id: rs59257923
ExAC: 1:68910310 A / G
gnomAD v2: 1-68910310-A-G
gnomAD v3: 1-68444627-A-G
gnomAD v4: 1-68444627-A-G
MyVariant Identifiers: chr1:g.68910310A>G (hg19) chr1:g.68444627A>G (hg38)
ERepo: CA226548/MONDO:0100368/120
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444627A>G , CM000663.2:g.68444627A>G GRCh38
NC_000001.10:g.68910310A>G , CM000663.1:g.68910310A>G GRCh37
NC_000001.9:g.68682898A>G NCBI36
NG_008472.1:g.10333T>C
NG_008472.2:g.10333T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.399T>C MANE Select ENSP00000262340.5:p.Leu133=
ENST00000262340.5:c.399T>C ENSP00000262340.5:p.Leu133=
NM_000329.2:c.399T>C NP_000320.1:p.Leu133=
XM_017002027.1:c.123T>C XP_016857516.1:p.Leu41=
NM_000329.3:c.399T>C MANE Select NP_000320.1:p.Leu133=
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