Canonical Allele Identifier: CA418277553
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1645823247
MyVariant Identifiers: chr1:g.68896845A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431162A>G , CM000663.2:g.68431162A>G GRCh38
NC_000001.10:g.68896845A>G , CM000663.1:g.68896845A>G GRCh37
NC_000001.9:g.68669433A>G NCBI36
NG_008472.1:g.23798T>C
NG_008472.2:g.23798T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1353T>C MANE Select ENSP00000262340.5:p.Asn451=
ENST00000262340.5:c.1353T>C ENSP00000262340.5:p.Asn451=
NM_000329.2:c.1353T>C NP_000320.1:p.Asn451=
XM_017002027.1:c.1077T>C XP_016857516.1:p.Asn359=
NM_000329.3:c.1353T>C MANE Select NP_000320.1:p.Asn451=
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