Canonical Allele Identifier: CA340741281
Gene: RPE65 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429883G>A , CM000663.2:g.68429883G>A GRCh38
NC_000001.10:g.68895566G>A , CM000663.1:g.68895566G>A GRCh37
NC_000001.9:g.68668154G>A NCBI36
NG_008472.1:g.25077C>T
NG_008472.2:g.25077C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1495C>T MANE Select ENSP00000262340.5:p.Pro499Ser
ENST00000262340.5:c.1495C>T ENSP00000262340.5:p.Pro499Ser
NM_000329.2:c.1495C>T NP_000320.1:p.Pro499Ser
XM_017002027.1:c.1219C>T XP_016857516.1:p.Pro407Ser
NM_000329.3:c.1495C>T MANE Select NP_000320.1:p.Pro499Ser