Canonical Allele Identifier: CA340742808
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68897156T>C (hg19) chr1:g.68431473T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431473T>C , CM000663.2:g.68431473T>C GRCh38
NC_000001.10:g.68897156T>C , CM000663.1:g.68897156T>C GRCh37
NC_000001.9:g.68669744T>C NCBI36
NG_008472.1:g.23487A>G
NG_008472.2:g.23487A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1241A>G MANE Select ENSP00000262340.5:p.Gln414Arg
ENST00000262340.5:c.1241A>G ENSP00000262340.5:p.Gln414Arg
NM_000329.2:c.1241A>G NP_000320.1:p.Gln414Arg
XM_017002027.1:c.965A>G XP_016857516.1:p.Gln322Arg
NM_000329.3:c.1241A>G MANE Select NP_000320.1:p.Gln414Arg
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Search 100 bp 3'