Canonical Allele Identifier: CA902498

Gene: RPE65

Linked Data

• ClinVar Variation Id: 1517930
• ClinVar RCV Id: RCV002021382
• dbSNP Id: rs745338004
• ExAC: 1:68910215 T / A
• gnomAD v2: 1-68910215-T-A
• gnomAD v3: 1-68444532-T-A
• gnomAD v4: 1-68444532-T-A
• MyVariant Identifiers: chr1:g.68910215T>A (hg19) ; chr1:g.68444532T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444532T>A , CM000663.2:g.68444532T>A	GRCh38
NC_000001.10:g.68910215T>A , CM000663.1:g.68910215T>A	GRCh37
NC_000001.9:g.68682803T>A	NCBI36
NG_008472.1:g.10428A>T
NG_008472.2:g.10428A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.494A>T MANE Select	ENSP00000262340.5:p.Gln165Leu
ENST00000262340.5:c.494A>T	ENSP00000262340.5:p.Gln165Leu
NM_000329.2:c.494A>T	NP_000320.1:p.Gln165Leu
XM_017002027.1:c.218A>T	XP_016857516.1:p.Gln73Leu
NM_000329.3:c.494A>T MANE Select	NP_000320.1:p.Gln165Leu