Canonical Allele Identifier: CA226579

Gene: RPE65

Linked Data

• ClinVar Variation Id: 98889
• ClinVar RCV Id: RCV000085220 ; RCV000678618 ; RCV001207227 ; RCV001831895 ; RCV003764797
• dbSNP Id: rs61752896
• gnomAD v2: 1-68905254-A-C
• gnomAD v3: 1-68439571-A-C
• gnomAD v4: 1-68439571-A-C
• MyVariant Identifiers: chr1:g.68905254A>C (hg19) ; chr1:g.68439571A>C (hg38)
• ERepo: CA226579/MONDO:0100368/120

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68439571A>C , CM000663.2:g.68439571A>C	GRCh38
NC_000001.10:g.68905254A>C , CM000663.1:g.68905254A>C	GRCh37
NC_000001.9:g.68677842A>C	NCBI36
NG_008472.1:g.15389T>G
NG_008472.2:g.15389T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.715T>G MANE Select	ENSP00000262340.5:p.Tyr239Asp
ENST00000262340.5:c.715T>G	ENSP00000262340.5:p.Tyr239Asp
NM_000329.2:c.715T>G	NP_000320.1:p.Tyr239Asp
XM_017002027.1:c.439T>G	XP_016857516.1:p.Tyr147Asp
NM_000329.3:c.715T>G MANE Select	NP_000320.1:p.Tyr239Asp