Canonical Allele Identifier: CA1173557414
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1645806785
gnomAD v4: 1-68429763-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429763T>C , CM000663.2:g.68429763T>C GRCh38
NC_000001.10:g.68895446T>C , CM000663.1:g.68895446T>C GRCh37
NC_000001.9:g.68668034T>C NCBI36
NG_008472.1:g.25197A>G
NG_008472.2:g.25197A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.*13A>G MANE Select ENSP00000262340.5:n.*13A>G
ENST00000262340.5:c.*13A>G ENSP00000262340.5:n.*13A>G
NM_000329.2:c.*13A>G NP_000320.1:n.*13A>G
XM_017002027.1:c.*13A>G XP_016857516.1:n.*13A>G
NM_000329.3:c.*13A>G MANE Select NP_000320.1:n.*13A>G
Search 100 bp 5'
Search 100 bp 3'