Canonical Allele Identifier: CA523301921
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 2041253
ClinVar RCV Id: RCV002912948
dbSNP Id: rs1396125750
gnomAD v2: 1-68910365-C-A
gnomAD v3: 1-68444682-C-A
gnomAD v4: 1-68444682-C-A
MyVariant Identifiers: chr1:g.68910365C>A (hg19) chr1:g.68444682C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444682C>A , CM000663.2:g.68444682C>A GRCh38
NC_000001.10:g.68910365C>A , CM000663.1:g.68910365C>A GRCh37
NC_000001.9:g.68682953C>A NCBI36
NG_008472.1:g.10278G>T
NG_008472.2:g.10278G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.354-10G>T MANE Select ENSP00000262340.5:n.354-10G>T
ENST00000262340.5:c.354-10G>T ENSP00000262340.5:n.354-10G>T
NM_000329.2:c.354-10G>T NP_000320.1:n.354-10G>T
XM_017002027.1:c.78-10G>T XP_016857516.1:n.78-10G>T
NM_000329.3:c.354-10G>T MANE Select NP_000320.1:n.354-10G>T
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