Canonical Allele Identifier: CA523298931
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1345858554
gnomAD v2: 1-68895745-C-A
gnomAD v3: 1-68430062-C-A
gnomAD v4: 1-68430062-C-A
MyVariant Identifiers: chr1:g.68895745C>A (hg19) chr1:g.68430062C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68430062C>A , CM000663.2:g.68430062C>A GRCh38
NC_000001.10:g.68895745C>A , CM000663.1:g.68895745C>A GRCh37
NC_000001.9:g.68668333C>A NCBI36
NG_008472.1:g.24898G>T
NG_008472.2:g.24898G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1451-135G>T MANE Select ENSP00000262340.5:n.1451-135G>T
ENST00000262340.5:c.1451-135G>T ENSP00000262340.5:n.1451-135G>T
NM_000329.2:c.1451-135G>T NP_000320.1:n.1451-135G>T
XM_017002027.1:c.1175-135G>T XP_016857516.1:n.1175-135G>T
NM_000329.3:c.1451-135G>T MANE Select NP_000320.1:n.1451-135G>T
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