Canonical Allele Identifier: CA340742878
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1718699
ClinVar RCV Id: RCV002301607
MyVariant Identifiers: chr1:g.68897163G>A (hg19) chr1:g.68431480G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431480G>A , CM000663.2:g.68431480G>A GRCh38
NC_000001.10:g.68897163G>A , CM000663.1:g.68897163G>A GRCh37
NC_000001.9:g.68669751G>A NCBI36
NG_008472.1:g.23480C>T
NG_008472.2:g.23480C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1234C>T MANE Select ENSP00000262340.5:p.Pro412Ser
ENST00000262340.5:c.1234C>T ENSP00000262340.5:p.Pro412Ser
NM_000329.2:c.1234C>T NP_000320.1:p.Pro412Ser
XM_017002027.1:c.958C>T XP_016857516.1:p.Pro320Ser
NM_000329.3:c.1234C>T MANE Select NP_000320.1:p.Pro412Ser
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