Canonical Allele Identifier: CA340742180
Gene: RPE65 HGNC NCBI

Linked Data

gnomAD v4: 1-68431145-G-A
MyVariant Identifiers: chr1:g.68896828G>A (hg19) chr1:g.68431145G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431145G>A , CM000663.2:g.68431145G>A GRCh38
NC_000001.10:g.68896828G>A , CM000663.1:g.68896828G>A GRCh37
NC_000001.9:g.68669416G>A NCBI36
NG_008472.1:g.23815C>T
NG_008472.2:g.23815C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1370C>T MANE Select ENSP00000262340.5:p.Thr457Ile
ENST00000262340.5:c.1370C>T ENSP00000262340.5:p.Thr457Ile
NM_000329.2:c.1370C>T NP_000320.1:p.Thr457Ile
XM_017002027.1:c.1094C>T XP_016857516.1:p.Thr365Ile
NM_000329.3:c.1370C>T MANE Select NP_000320.1:p.Thr457Ile
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