Canonical Allele Identifier: CA1173557404
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1645806637
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429739A>C , CM000663.2:g.68429739A>C GRCh38
NC_000001.10:g.68895422A>C , CM000663.1:g.68895422A>C GRCh37
NC_000001.9:g.68668010A>C NCBI36
NG_008472.1:g.25221T>G
NG_008472.2:g.25221T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.*37T>G MANE Select ENSP00000262340.5:n.*37T>G
ENST00000262340.5:c.*37T>G ENSP00000262340.5:n.*37T>G
NM_000329.2:c.*37T>G NP_000320.1:n.*37T>G
XM_017002027.1:c.*37T>G XP_016857516.1:n.*37T>G
NM_000329.3:c.*37T>G MANE Select NP_000320.1:n.*37T>G
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