Canonical Allele Identifier: CA902540
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs747569700
ExAC: 1:68910453 A / G
gnomAD v2: 1-68910453-A-G
gnomAD v4: 1-68444770-A-G
MyVariant Identifiers: chr1:g.68910453A>G (hg19) chr1:g.68444770A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444770A>G , CM000663.2:g.68444770A>G GRCh38
NC_000001.10:g.68910453A>G , CM000663.1:g.68910453A>G GRCh37
NC_000001.9:g.68683041A>G NCBI36
NG_008472.1:g.10190T>C
NG_008472.2:g.10190T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.353+6T>C MANE Select ENSP00000262340.5:n.353+6T>C
ENST00000262340.5:c.353+6T>C ENSP00000262340.5:n.353+6T>C
NM_000329.2:c.353+6T>C NP_000320.1:n.353+6T>C
XM_017002027.1:c.77+6T>C XP_016857516.1:n.77+6T>C
NM_000329.3:c.353+6T>C MANE Select NP_000320.1:n.353+6T>C
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