Canonical Allele Identifier: CA902505
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1138132
ClinVar RCV Id: RCV001474375
dbSNP Id: rs370004418
ExAC: 1:68910259 G / A
gnomAD v2: 1-68910259-G-A
gnomAD v3: 1-68444576-G-A
gnomAD v4: 1-68444576-G-A
MyVariant Identifiers: chr1:g.68910259G>A (hg19) chr1:g.68444576G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444576G>A , CM000663.2:g.68444576G>A GRCh38
NC_000001.10:g.68910259G>A , CM000663.1:g.68910259G>A GRCh37
NC_000001.9:g.68682847G>A NCBI36
NG_008472.1:g.10384C>T
NG_008472.2:g.10384C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.450C>T MANE Select ENSP00000262340.5:p.Asn150=
ENST00000262340.5:c.450C>T ENSP00000262340.5:p.Asn150=
NM_000329.2:c.450C>T NP_000320.1:p.Asn150=
XM_017002027.1:c.174C>T XP_016857516.1:p.Asn58=
NM_000329.3:c.450C>T MANE Select NP_000320.1:p.Asn150=
Search 100 bp 5'
Search 100 bp 3'