Canonical Allele Identifier: CA340748092
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68910463A>C (hg19) chr1:g.68444780A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444780A>C , CM000663.2:g.68444780A>C GRCh38
NC_000001.10:g.68910463A>C , CM000663.1:g.68910463A>C GRCh37
NC_000001.9:g.68683051A>C NCBI36
NG_008472.1:g.10180T>G
NG_008472.2:g.10180T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.349T>G MANE Select ENSP00000262340.5:p.Ser117Ala
ENST00000262340.5:c.349T>G ENSP00000262340.5:p.Ser117Ala
NM_000329.2:c.349T>G NP_000320.1:p.Ser117Ala
XM_017002027.1:c.73T>G XP_016857516.1:p.Ser25Ala
NM_000329.3:c.349T>G MANE Select NP_000320.1:p.Ser117Ala
Search 100 bp 5'
Search 100 bp 3'