Allele Registry

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Canonical Allele Identifier: CA23562755

Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs901407499

gnomAD v3: 1-68430098-T-C

gnomAD v4: 1-68430098-T-C

MyVariant Identifiers: chr1:g.68895781T>C (hg19) chr1:g.68430098T>C (hg38)

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Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68430098T>C , CM000663.2:g.68430098T>C	GRCh38
NC_000001.10:g.68895781T>C , CM000663.1:g.68895781T>C	GRCh37
NC_000001.9:g.68668369T>C	NCBI36
NG_008472.1:g.24862A>G
NG_008472.2:g.24862A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1451-171A>G MANE Select	ENSP00000262340.5:n.1451-171A>G
ENST00000262340.5:c.1451-171A>G	ENSP00000262340.5:n.1451-171A>G
NM_000329.2:c.1451-171A>G	NP_000320.1:n.1451-171A>G
XM_017002027.1:c.1175-171A>G	XP_016857516.1:n.1175-171A>G
NM_000329.3:c.1451-171A>G MANE Select	NP_000320.1:n.1451-171A>G

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