Canonical Allele Identifier: CA902500
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 2925009
ClinVar RCV Id: RCV003780663
dbSNP Id: rs775020347
ExAC: 1:68910238 T / A
gnomAD v2: 1-68910238-T-A
gnomAD v4: 1-68444555-T-A
MyVariant Identifiers: chr1:g.68910238T>A (hg19) chr1:g.68444555T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444555T>A , CM000663.2:g.68444555T>A GRCh38
NC_000001.10:g.68910238T>A , CM000663.1:g.68910238T>A GRCh37
NC_000001.9:g.68682826T>A NCBI36
NG_008472.1:g.10405A>T
NG_008472.2:g.10405A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.471A>T MANE Select ENSP00000262340.5:p.Pro157=
ENST00000262340.5:c.471A>T ENSP00000262340.5:p.Pro157=
NM_000329.2:c.471A>T NP_000320.1:p.Pro157=
XM_017002027.1:c.195A>T XP_016857516.1:p.Pro65=
NM_000329.3:c.471A>T MANE Select NP_000320.1:p.Pro157=
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