Canonical Allele Identifier: CA340741065
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1461949532
gnomAD v2: 1-68895523-A-G
gnomAD v4: 1-68429840-A-G
MyVariant Identifiers: chr1:g.68895523A>G (hg19) chr1:g.68429840A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429840A>G , CM000663.2:g.68429840A>G GRCh38
NC_000001.10:g.68895523A>G , CM000663.1:g.68895523A>G GRCh37
NC_000001.9:g.68668111A>G NCBI36
NG_008472.1:g.25120T>C
NG_008472.2:g.25120T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.1538T>C MANE Select ENSP00000262340.5:p.Val513Ala
ENST00000262340.5:c.1538T>C ENSP00000262340.5:p.Val513Ala
NM_000329.2:c.1538T>C NP_000320.1:p.Val513Ala
XM_017002027.1:c.1262T>C XP_016857516.1:p.Val421Ala
NM_000329.3:c.1538T>C MANE Select NP_000320.1:p.Val513Ala
Search 100 bp 5'
Search 100 bp 3'