Canonical Allele Identifier: CA340741069
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1327810800
gnomAD v2: 1-68895524-C-A
gnomAD v4: 1-68429841-C-A
MyVariant Identifiers: chr1:g.68895524C>A (hg19) chr1:g.68429841C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429841C>A , CM000663.2:g.68429841C>A GRCh38
NC_000001.10:g.68895524C>A , CM000663.1:g.68895524C>A GRCh37
NC_000001.9:g.68668112C>A NCBI36
NG_008472.1:g.25119G>T
NG_008472.2:g.25119G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1537G>T MANE Select ENSP00000262340.5:p.Val513Phe
ENST00000262340.5:c.1537G>T ENSP00000262340.5:p.Val513Phe
NM_000329.2:c.1537G>T NP_000320.1:p.Val513Phe
XM_017002027.1:c.1261G>T XP_016857516.1:p.Val421Phe
NM_000329.3:c.1537G>T MANE Select NP_000320.1:p.Val513Phe
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