Canonical Allele Identifier: CA340744786
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1304550
ClinVar RCV Id: RCV001752317 RCV003771930
dbSNP Id: rs2100818454
MyVariant Identifiers: chr1:g.68904677T>C (hg19) chr1:g.68438994T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68438994T>C , CM000663.2:g.68438994T>C GRCh38
NC_000001.10:g.68904677T>C , CM000663.1:g.68904677T>C GRCh37
NC_000001.9:g.68677265T>C NCBI36
NG_008472.1:g.15966A>G
NG_008472.2:g.15966A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.946A>G MANE Select ENSP00000262340.5:p.Asn316Asp
ENST00000262340.5:c.946A>G ENSP00000262340.5:p.Asn316Asp
NM_000329.2:c.946A>G NP_000320.1:p.Asn316Asp
XM_017002027.1:c.670A>G XP_016857516.1:p.Asn224Asp
NM_000329.3:c.946A>G MANE Select NP_000320.1:p.Asn316Asp
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