Canonical Allele Identifier: CA418279236
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1107181
ClinVar RCV Id: RCV001432175
dbSNP Id: rs2100817149
gnomAD v4: 1-68438295-G-A
MyVariant Identifiers: chr1:g.68903978G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68438295G>A , CM000663.2:g.68438295G>A GRCh38
NC_000001.10:g.68903978G>A , CM000663.1:g.68903978G>A GRCh37
NC_000001.9:g.68676566G>A NCBI36
NG_008472.1:g.16665C>T
NG_008472.2:g.16665C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1020C>T MANE Select ENSP00000262340.5:p.Tyr340=
ENST00000262340.5:c.1020C>T ENSP00000262340.5:p.Tyr340=
NM_000329.2:c.1020C>T NP_000320.1:p.Tyr340=
XM_017002027.1:c.744C>T XP_016857516.1:p.Tyr248=
NM_000329.3:c.1020C>T MANE Select NP_000320.1:p.Tyr340=
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