Canonical Allele Identifier: CA340742875
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68897162G>T (hg19) chr1:g.68431479G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431479G>T , CM000663.2:g.68431479G>T GRCh38
NC_000001.10:g.68897162G>T , CM000663.1:g.68897162G>T GRCh37
NC_000001.9:g.68669750G>T NCBI36
NG_008472.1:g.23481C>A
NG_008472.2:g.23481C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1235C>A MANE Select ENSP00000262340.5:p.Pro412His
ENST00000262340.5:c.1235C>A ENSP00000262340.5:p.Pro412His
NM_000329.2:c.1235C>A NP_000320.1:p.Pro412His
XM_017002027.1:c.959C>A XP_016857516.1:p.Pro320His
NM_000329.3:c.1235C>A MANE Select NP_000320.1:p.Pro412His
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