Canonical Allele Identifier: CA2499214848
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1131379
ClinVar RCV Id: RCV001465218
dbSNP Id: rs2100805367
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429933T>A , CM000663.2:g.68429933T>A GRCh38
NC_000001.10:g.68895616T>A , CM000663.1:g.68895616T>A GRCh37
NC_000001.9:g.68668204T>A NCBI36
NG_008472.1:g.25027A>T
NG_008472.2:g.25027A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.1451-6A>T MANE Select ENSP00000262340.5:n.1451-6A>T
ENST00000262340.5:c.1451-6A>T ENSP00000262340.5:n.1451-6A>T
NM_000329.2:c.1451-6A>T NP_000320.1:n.1451-6A>T
XM_017002027.1:c.1175-6A>T XP_016857516.1:n.1175-6A>T
NM_000329.3:c.1451-6A>T MANE Select NP_000320.1:n.1451-6A>T
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