Canonical Allele Identifier: CA418282736
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1104488
ClinVar RCV Id: RCV001428541
dbSNP Id: rs2100827854
MyVariant Identifiers: chr1:g.68910319G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444636G>A , CM000663.2:g.68444636G>A GRCh38
NC_000001.10:g.68910319G>A , CM000663.1:g.68910319G>A GRCh37
NC_000001.9:g.68682907G>A NCBI36
NG_008472.1:g.10324C>T
NG_008472.2:g.10324C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.390C>T MANE Select ENSP00000262340.5:p.Asp130=
ENST00000262340.5:c.390C>T ENSP00000262340.5:p.Asp130=
NM_000329.2:c.390C>T NP_000320.1:p.Asp130=
XM_017002027.1:c.114C>T XP_016857516.1:p.Asp38=
NM_000329.3:c.390C>T MANE Select NP_000320.1:p.Asp130=
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