Canonical Allele Identifier: CA226501
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98836
ClinVar RCV Id: RCV000085162 RCV000327489 RCV000539372 RCV001096918 RCV001096917 RCV001273331 RCV003460768 RCV002490739
dbSNP Id: rs34627040
ExAC: 1:68897002 G / A
gnomAD v2: 1-68897002-G-A
gnomAD v3: 1-68431319-G-A
gnomAD v4: 1-68431319-G-A
MyVariant Identifiers: chr1:g.68897002G>A (hg19) chr1:g.68431319G>A (hg38)
ERepo: CA226501/MONDO:0100368/120
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431319G>A , CM000663.2:g.68431319G>A GRCh38
NC_000001.10:g.68897002G>A , CM000663.1:g.68897002G>A GRCh37
NC_000001.9:g.68669590G>A NCBI36
NG_008472.1:g.23641C>T
NG_008472.2:g.23641C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1301C>T MANE Select ENSP00000262340.5:p.Ala434Val
ENST00000262340.5:c.1301C>T ENSP00000262340.5:p.Ala434Val
NM_000329.2:c.1301C>T NP_000320.1:p.Ala434Val
XM_017002027.1:c.1025C>T XP_016857516.1:p.Ala342Val
NM_000329.3:c.1301C>T MANE Select NP_000320.1:p.Ala434Val
Search 100 bp 5'
Search 100 bp 3'