Canonical Allele Identifier: CA902511
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1160131
ClinVar RCV Id: RCV001504114
dbSNP Id: rs373547092
ExAC: 1:68910301 G / A
gnomAD v2: 1-68910301-G-A
gnomAD v3: 1-68444618-G-A
gnomAD v4: 1-68444618-G-A
MyVariant Identifiers: chr1:g.68910301G>A (hg19) chr1:g.68444618G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444618G>A , CM000663.2:g.68444618G>A GRCh38
NC_000001.10:g.68910301G>A , CM000663.1:g.68910301G>A GRCh37
NC_000001.9:g.68682889G>A NCBI36
NG_008472.1:g.10342C>T
NG_008472.2:g.10342C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.408C>T MANE Select ENSP00000262340.5:p.Val136=
ENST00000262340.5:c.408C>T ENSP00000262340.5:p.Val136=
NM_000329.2:c.408C>T NP_000320.1:p.Val136=
XM_017002027.1:c.132C>T XP_016857516.1:p.Val44=
NM_000329.3:c.408C>T MANE Select NP_000320.1:p.Val136=
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Search 100 bp 3'