Canonical Allele Identifier: CA418279796
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1127784
ClinVar RCV Id: RCV001460296
dbSNP Id: rs1645880052
MyVariant Identifiers: chr1:g.68904672G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68438989G>A , CM000663.2:g.68438989G>A GRCh38
NC_000001.10:g.68904672G>A , CM000663.1:g.68904672G>A GRCh37
NC_000001.9:g.68677260G>A NCBI36
NG_008472.1:g.15971C>T
NG_008472.2:g.15971C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.951C>T MANE Select ENSP00000262340.5:p.Thr317=
ENST00000262340.5:c.951C>T ENSP00000262340.5:p.Thr317=
NM_000329.2:c.951C>T NP_000320.1:p.Thr317=
XM_017002027.1:c.675C>T XP_016857516.1:p.Thr225=
NM_000329.3:c.951C>T MANE Select NP_000320.1:p.Thr317=
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