Canonical Allele Identifier: CA902580
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs774650221
ExAC: 1:68912431 C / A
gnomAD v2: 1-68912431-C-A
gnomAD v4: 1-68446748-C-A
MyVariant Identifiers: chr1:g.68912431C>A (hg19) chr1:g.68446748C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68446748C>A , CM000663.2:g.68446748C>A GRCh38
NC_000001.10:g.68912431C>A , CM000663.1:g.68912431C>A GRCh37
NC_000001.9:g.68685019C>A NCBI36
NG_008472.1:g.8212G>T
NG_008472.2:g.8212G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.207G>T MANE Select ENSP00000262340.5:p.Lys69Asn
ENST00000262340.5:c.207G>T ENSP00000262340.5:p.Lys69Asn
NM_000329.2:c.207G>T NP_000320.1:p.Lys69Asn
XM_017002027.1:c.-31-1865G>T XP_016857516.1:n.-31-1865G>T
NM_000329.3:c.207G>T MANE Select NP_000320.1:p.Lys69Asn
Search 100 bp 5'
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