Canonical Allele Identifier: CA523749721

Gene: RPE65

Linked Data

• dbSNP Id: rs1469724777
• gnomAD v2: 1-68896925-T-C
• gnomAD v3: 1-68431242-T-C
• gnomAD v4: 1-68431242-T-C
• MyVariant Identifiers: chr1:g.68896925T>C (hg19) ; chr1:g.68431242T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68431242T>C , CM000663.2:g.68431242T>C	GRCh38
NC_000001.10:g.68896925T>C , CM000663.1:g.68896925T>C	GRCh37
NC_000001.9:g.68669513T>C	NCBI36
NG_008472.1:g.23718A>G
NG_008472.2:g.23718A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1338+40A>G MANE Select	ENSP00000262340.5:n.1338+40A>G
ENST00000262340.5:c.1338+40A>G	ENSP00000262340.5:n.1338+40A>G
NM_000329.2:c.1338+40A>G	NP_000320.1:n.1338+40A>G
XM_017002027.1:c.1062+40A>G	XP_016857516.1:n.1062+40A>G
NM_000329.3:c.1338+40A>G MANE Select	NP_000320.1:n.1338+40A>G