Allele Registry

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Canonical Allele Identifier: CA738208217

Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1420302448

gnomAD v4: 1-68429639-A-C

MyVariant Identifiers: chr1:g.68895322A>C (hg19) chr1:g.68429639A>C (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68429639A>C , CM000663.2:g.68429639A>C	GRCh38
NC_000001.10:g.68895322A>C , CM000663.1:g.68895322A>C	GRCh37
NC_000001.9:g.68667910A>C	NCBI36
NG_008472.1:g.25321T>G
NG_008472.2:g.25321T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.*137T>G MANE Select	ENSP00000262340.5:n.*137T>G
ENST00000262340.5:c.*137T>G	ENSP00000262340.5:n.*137T>G
NM_000329.2:c.*137T>G	NP_000320.1:n.*137T>G
XM_017002027.1:c.*137T>G	XP_016857516.1:n.*137T>G
NM_000329.3:c.*137T>G MANE Select	NP_000320.1:n.*137T>G

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