Canonical Allele Identifier: CA23574724
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs925278950
gnomAD v2: 1-68910237-C-G
gnomAD v3: 1-68444554-C-G
gnomAD v4: 1-68444554-C-G
MyVariant Identifiers: chr1:g.68910237C>G (hg19) chr1:g.68444554C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444554C>G , CM000663.2:g.68444554C>G GRCh38
NC_000001.10:g.68910237C>G , CM000663.1:g.68910237C>G GRCh37
NC_000001.9:g.68682825C>G NCBI36
NG_008472.1:g.10406G>C
NG_008472.2:g.10406G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.472G>C MANE Select ENSP00000262340.5:p.Glu158Gln
ENST00000262340.5:c.472G>C ENSP00000262340.5:p.Glu158Gln
NM_000329.2:c.472G>C NP_000320.1:p.Glu158Gln
XM_017002027.1:c.196G>C XP_016857516.1:p.Glu66Gln
NM_000329.3:c.472G>C MANE Select NP_000320.1:p.Glu158Gln
Search 100 bp 5'
Search 100 bp 3'