Canonical Allele Identifier: CA226557

Gene: RPE65

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

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