Canonical Allele Identifier: CA340747609
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1972943
ClinVar RCV Id: RCV002730901
MyVariant Identifiers: chr1:g.68910254A>G (hg19) chr1:g.68444571A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444571A>G , CM000663.2:g.68444571A>G GRCh38
NC_000001.10:g.68910254A>G , CM000663.1:g.68910254A>G GRCh37
NC_000001.9:g.68682842A>G NCBI36
NG_008472.1:g.10389T>C
NG_008472.2:g.10389T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.455T>C MANE Select ENSP00000262340.5:p.Ile152Thr
ENST00000262340.5:c.455T>C ENSP00000262340.5:p.Ile152Thr
NM_000329.2:c.455T>C NP_000320.1:p.Ile152Thr
XM_017002027.1:c.179T>C XP_016857516.1:p.Ile60Thr
NM_000329.3:c.455T>C MANE Select NP_000320.1:p.Ile152Thr
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