Canonical Allele Identifier: CA738204448
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1384218297
gnomAD v3: 1-68444514-C-T
gnomAD v4: 1-68444514-C-T
MyVariant Identifiers: chr1:g.68910197C>T (hg19) chr1:g.68444514C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444514C>T , CM000663.2:g.68444514C>T GRCh38
NC_000001.10:g.68910197C>T , CM000663.1:g.68910197C>T GRCh37
NC_000001.9:g.68682785C>T NCBI36
NG_008472.1:g.10446G>A
NG_008472.2:g.10446G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.495+17G>A MANE Select ENSP00000262340.5:n.495+17G>A
ENST00000262340.5:c.495+17G>A ENSP00000262340.5:n.495+17G>A
NM_000329.2:c.495+17G>A NP_000320.1:n.495+17G>A
XM_017002027.1:c.219+17G>A XP_016857516.1:n.219+17G>A
NM_000329.3:c.495+17G>A MANE Select NP_000320.1:n.495+17G>A
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