Canonical Allele Identifier: CA340742401
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 849411
ClinVar RCV Id: RCV001053365 RCV003130129
dbSNP Id: rs1645824226
gnomAD v4: 1-68431298-T-C
MyVariant Identifiers: chr1:g.68896981T>C (hg19) chr1:g.68431298T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431298T>C , CM000663.2:g.68431298T>C GRCh38
NC_000001.10:g.68896981T>C , CM000663.1:g.68896981T>C GRCh37
NC_000001.9:g.68669569T>C NCBI36
NG_008472.1:g.23662A>G
NG_008472.2:g.23662A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1322A>G MANE Select ENSP00000262340.5:p.His441Arg
ENST00000262340.5:c.1322A>G ENSP00000262340.5:p.His441Arg
NM_000329.2:c.1322A>G NP_000320.1:p.His441Arg
XM_017002027.1:c.1046A>G XP_016857516.1:p.His349Arg
NM_000329.3:c.1322A>G MANE Select NP_000320.1:p.His441Arg
Search 100 bp 5'
Search 100 bp 3'