Canonical Allele Identifier: CA226557
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98873
ClinVar RCV Id: RCV000085203 RCV000778252 RCV000678617 RCV001245153 RCV001250708 RCV001831894 RCV004527316
dbSNP Id: rs61752883
ExAC: 1:68906680 C / A
gnomAD v2: 1-68906680-C-A
gnomAD v3: 1-68440997-C-A
gnomAD v4: 1-68440997-C-A
MyVariant Identifiers: chr1:g.68906680C>A (hg19) chr1:g.68440997C>A (hg38)
ERepo: CA226557/MONDO:0100368/120
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68440997C>A , CM000663.2:g.68440997C>A GRCh38
NC_000001.10:g.68906680C>A , CM000663.1:g.68906680C>A GRCh37
NC_000001.9:g.68679268C>A NCBI36
NG_008472.1:g.13963G>T
NG_008472.2:g.13963G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.499G>T MANE Select ENSP00000262340.5:p.Asp167Tyr
ENST00000262340.5:c.499G>T ENSP00000262340.5:p.Asp167Tyr
NM_000329.2:c.499G>T NP_000320.1:p.Asp167Tyr
XM_017002027.1:c.223G>T XP_016857516.1:p.Asp75Tyr
NM_000329.3:c.499G>T MANE Select NP_000320.1:p.Asp167Tyr
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