Allele Registry

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Canonical Allele Identifier: CA738208213

Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1319029447

gnomAD v4: 1-68429636-T-C

MyVariant Identifiers: chr1:g.68895319T>C (hg19) chr1:g.68429636T>C (hg38)

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Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68429636T>C , CM000663.2:g.68429636T>C	GRCh38
NC_000001.10:g.68895319T>C , CM000663.1:g.68895319T>C	GRCh37
NC_000001.9:g.68667907T>C	NCBI36
NG_008472.1:g.25324A>G
NG_008472.2:g.25324A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.*140A>G MANE Select	ENSP00000262340.5:n.*140A>G
ENST00000262340.5:c.*140A>G	ENSP00000262340.5:n.*140A>G
NM_000329.2:c.*140A>G	NP_000320.1:n.*140A>G
XM_017002027.1:c.*140A>G	XP_016857516.1:n.*140A>G
NM_000329.3:c.*140A>G MANE Select	NP_000320.1:n.*140A>G

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