Canonical Allele Identifier: CA902123
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs750954616
ExAC: 1:68895447 G / A
gnomAD v2: 1-68895447-G-A
gnomAD v4: 1-68429764-G-A
MyVariant Identifiers: chr1:g.68895447G>A (hg19) chr1:g.68429764G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429764G>A , CM000663.2:g.68429764G>A GRCh38
NC_000001.10:g.68895447G>A , CM000663.1:g.68895447G>A GRCh37
NC_000001.9:g.68668035G>A NCBI36
NG_008472.1:g.25196C>T
NG_008472.2:g.25196C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.*12C>T MANE Select ENSP00000262340.5:n.*12C>T
ENST00000262340.5:c.*12C>T ENSP00000262340.5:n.*12C>T
NM_000329.2:c.*12C>T NP_000320.1:n.*12C>T
XM_017002027.1:c.*12C>T XP_016857516.1:n.*12C>T
NM_000329.3:c.*12C>T MANE Select NP_000320.1:n.*12C>T
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