Canonical Allele Identifier: CA2646149679
Gene: RPE65 HGNC NCBI

Linked Data

gnomAD v4: 1-68429774-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429774G>C , CM000663.2:g.68429774G>C GRCh38
NC_000001.10:g.68895457G>C , CM000663.1:g.68895457G>C GRCh37
NC_000001.9:g.68668045G>C NCBI36
NG_008472.1:g.25186C>G
NG_008472.2:g.25186C>G

Transcript Alleles

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