Canonical Allele Identifier: CA902502
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs768968396
ExAC: 1:68910250 T / C
gnomAD v2: 1-68910250-T-C
gnomAD v4: 1-68444567-T-C
MyVariant Identifiers: chr1:g.68910250T>C (hg19) chr1:g.68444567T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444567T>C , CM000663.2:g.68444567T>C GRCh38
NC_000001.10:g.68910250T>C , CM000663.1:g.68910250T>C GRCh37
NC_000001.9:g.68682838T>C NCBI36
NG_008472.1:g.10393A>G
NG_008472.2:g.10393A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.459A>G MANE Select ENSP00000262340.5:p.Thr153=
ENST00000262340.5:c.459A>G ENSP00000262340.5:p.Thr153=
NM_000329.2:c.459A>G NP_000320.1:p.Thr153=
XM_017002027.1:c.183A>G XP_016857516.1:p.Thr61=
NM_000329.3:c.459A>G MANE Select NP_000320.1:p.Thr153=
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