Canonical Allele Identifier: CA1002830234
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1645814471
gnomAD v3: 1-68429940-A-G
gnomAD v4: 1-68429940-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429940A>G , CM000663.2:g.68429940A>G GRCh38
NC_000001.10:g.68895623A>G , CM000663.1:g.68895623A>G GRCh37
NC_000001.9:g.68668211A>G NCBI36
NG_008472.1:g.25020T>C
NG_008472.2:g.25020T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1451-13T>C MANE Select ENSP00000262340.5:n.1451-13T>C
ENST00000262340.5:c.1451-13T>C ENSP00000262340.5:n.1451-13T>C
NM_000329.2:c.1451-13T>C NP_000320.1:n.1451-13T>C
XM_017002027.1:c.1175-13T>C XP_016857516.1:n.1175-13T>C
NM_000329.3:c.1451-13T>C MANE Select NP_000320.1:n.1451-13T>C
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