Canonical Allele Identifier: CA340742827
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs200950327
gnomAD v2: 1-68897159-C-G
MyVariant Identifiers: chr1:g.68897159C>G (hg19) chr1:g.68431476C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431476C>G , CM000663.2:g.68431476C>G GRCh38
NC_000001.10:g.68897159C>G , CM000663.1:g.68897159C>G GRCh37
NC_000001.9:g.68669747C>G NCBI36
NG_008472.1:g.23484G>C
NG_008472.2:g.23484G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1238G>C MANE Select ENSP00000262340.5:p.Arg413Pro
ENST00000262340.5:c.1238G>C ENSP00000262340.5:p.Arg413Pro
NM_000329.2:c.1238G>C NP_000320.1:p.Arg413Pro
XM_017002027.1:c.962G>C XP_016857516.1:p.Arg321Pro
NM_000329.3:c.1238G>C MANE Select NP_000320.1:p.Arg413Pro
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