Canonical Allele Identifier: CA523299205
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1173851967
gnomAD v2: 1-68897120-A-T
gnomAD v4: 1-68431437-A-T
MyVariant Identifiers: chr1:g.68897120A>T (hg19) chr1:g.68431437A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431437A>T , CM000663.2:g.68431437A>T GRCh38
NC_000001.10:g.68897120A>T , CM000663.1:g.68897120A>T GRCh37
NC_000001.9:g.68669708A>T NCBI36
NG_008472.1:g.23523T>A
NG_008472.2:g.23523T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1243+34T>A MANE Select ENSP00000262340.5:n.1243+34T>A
ENST00000262340.5:c.1243+34T>A ENSP00000262340.5:n.1243+34T>A
NM_000329.2:c.1243+34T>A NP_000320.1:n.1243+34T>A
XM_017002027.1:c.967+34T>A XP_016857516.1:n.967+34T>A
NM_000329.3:c.1243+34T>A MANE Select NP_000320.1:n.1243+34T>A
Search 100 bp 5'
Search 100 bp 3'