Canonical Allele Identifier: CA226505
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98839
ClinVar RCV Id: RCV000085165
dbSNP Id: rs62637002
MyVariant Identifiers: chr1:g.68896996C>A (hg19) chr1:g.68431313C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431313C>A , CM000663.2:g.68431313C>A GRCh38
NC_000001.10:g.68896996C>A , CM000663.1:g.68896996C>A GRCh37
NC_000001.9:g.68669584C>A NCBI36
NG_008472.1:g.23647G>T
NG_008472.2:g.23647G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1307G>T MANE Select ENSP00000262340.5:p.Gly436Val
ENST00000262340.5:c.1307G>T ENSP00000262340.5:p.Gly436Val
NM_000329.2:c.1307G>T NP_000320.1:p.Gly436Val
XM_017002027.1:c.1031G>T XP_016857516.1:p.Gly344Val
NM_000329.3:c.1307G>T MANE Select NP_000320.1:p.Gly436Val
Search 100 bp 5'
Search 100 bp 3'