Canonical Allele Identifier: CA243145

Gene: RPE65

Linked Data

• ClinVar Variation Id: 196254
• ClinVar RCV Id: RCV000177043 ; RCV001088492
• dbSNP Id: rs150260489
• ExAC: 1:68912470 T / C
• gnomAD v2: 1-68912470-T-C
• gnomAD v3: 1-68446787-T-C
• gnomAD v4: 1-68446787-T-C
• MyVariant Identifiers: chr1:g.68912470T>C (hg19) ; chr1:g.68446787T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68446787T>C , CM000663.2:g.68446787T>C	GRCh38
NC_000001.10:g.68912470T>C , CM000663.1:g.68912470T>C	GRCh37
NC_000001.9:g.68685058T>C	NCBI36
NG_008472.1:g.8173A>G
NG_008472.2:g.8173A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.168A>G MANE Select	ENSP00000262340.5:p.Pro56=
ENST00000262340.5:c.168A>G	ENSP00000262340.5:p.Pro56=
NM_000329.2:c.168A>G	NP_000320.1:p.Pro56=
XM_017002027.1:c.-32+1837A>G	XP_016857516.1:n.-32+1837A>G
NM_000329.3:c.168A>G MANE Select	NP_000320.1:p.Pro56=