Canonical Allele Identifier: CA418277584
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1137041
ClinVar RCV Id: RCV001472935
dbSNP Id: rs2100807097
MyVariant Identifiers: chr1:g.68896857G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431174G>C , CM000663.2:g.68431174G>C GRCh38
NC_000001.10:g.68896857G>C , CM000663.1:g.68896857G>C GRCh37
NC_000001.9:g.68669445G>C NCBI36
NG_008472.1:g.23786C>G
NG_008472.2:g.23786C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1341C>G MANE Select ENSP00000262340.5:p.Leu447=
ENST00000262340.5:c.1341C>G ENSP00000262340.5:p.Leu447=
NM_000329.2:c.1341C>G NP_000320.1:p.Leu447=
XM_017002027.1:c.1065C>G XP_016857516.1:p.Leu355=
NM_000329.3:c.1341C>G MANE Select NP_000320.1:p.Leu447=