Canonical Allele Identifier: CA902193
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs777035385
ExAC: 1:68896882 A / C
gnomAD v2: 1-68896882-A-C
gnomAD v4: 1-68431199-A-C
MyVariant Identifiers: chr1:g.68896882A>C (hg19) chr1:g.68431199A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431199A>C , CM000663.2:g.68431199A>C GRCh38
NC_000001.10:g.68896882A>C , CM000663.1:g.68896882A>C GRCh37
NC_000001.9:g.68669470A>C NCBI36
NG_008472.1:g.23761T>G
NG_008472.2:g.23761T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1339-23T>G MANE Select ENSP00000262340.5:n.1339-23T>G
ENST00000262340.5:c.1339-23T>G ENSP00000262340.5:n.1339-23T>G
NM_000329.2:c.1339-23T>G NP_000320.1:n.1339-23T>G
XM_017002027.1:c.1063-23T>G XP_016857516.1:n.1063-23T>G
NM_000329.3:c.1339-23T>G MANE Select NP_000320.1:n.1339-23T>G
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