Canonical Allele Identifier: CA523298936
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1248193920
gnomAD v2: 1-68895801-C-T
gnomAD v3: 1-68430118-C-T
gnomAD v4: 1-68430118-C-T
MyVariant Identifiers: chr1:g.68895801C>T (hg19) chr1:g.68430118C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68430118C>T , CM000663.2:g.68430118C>T GRCh38
NC_000001.10:g.68895801C>T , CM000663.1:g.68895801C>T GRCh37
NC_000001.9:g.68668389C>T NCBI36
NG_008472.1:g.24842G>A
NG_008472.2:g.24842G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1451-191G>A MANE Select ENSP00000262340.5:n.1451-191G>A
ENST00000262340.5:c.1451-191G>A ENSP00000262340.5:n.1451-191G>A
NM_000329.2:c.1451-191G>A NP_000320.1:n.1451-191G>A
XM_017002027.1:c.1175-191G>A XP_016857516.1:n.1175-191G>A
NM_000329.3:c.1451-191G>A MANE Select NP_000320.1:n.1451-191G>A
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