Canonical Allele Identifier: CA2646149681
Gene: RPE65 HGNC NCBI

Linked Data

gnomAD v4: 1-68429775-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429775C>T , CM000663.2:g.68429775C>T GRCh38
NC_000001.10:g.68895458C>T , CM000663.1:g.68895458C>T GRCh37
NC_000001.9:g.68668046C>T NCBI36
NG_008472.1:g.25185G>A
NG_008472.2:g.25185G>A

Transcript Alleles

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