Canonical Allele Identifier: CA340748044
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 2678439
ClinVar RCV Id: RCV003466249
MyVariant Identifiers: chr1:g.68910357T>C (hg19) chr1:g.68444674T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444674T>C , CM000663.2:g.68444674T>C GRCh38
NC_000001.10:g.68910357T>C , CM000663.1:g.68910357T>C GRCh37
NC_000001.9:g.68682945T>C NCBI36
NG_008472.1:g.10286A>G
NG_008472.2:g.10286A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.354-2A>G MANE Select ENSP00000262340.5:n.354-2A>G
ENST00000262340.5:c.354-2A>G ENSP00000262340.5:n.354-2A>G
NM_000329.2:c.354-2A>G NP_000320.1:n.354-2A>G
XM_017002027.1:c.78-2A>G XP_016857516.1:n.78-2A>G
NM_000329.3:c.354-2A>G MANE Select NP_000320.1:n.354-2A>G
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