Canonical Allele Identifier: CA23562355
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs753379738
gnomAD v2: 1-68895398-T-G
gnomAD v3: 1-68429715-T-G
gnomAD v4: 1-68429715-T-G
MyVariant Identifiers: chr1:g.68895398T>G (hg19) chr1:g.68429715T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429715T>G , CM000663.2:g.68429715T>G GRCh38
NC_000001.10:g.68895398T>G , CM000663.1:g.68895398T>G GRCh37
NC_000001.9:g.68667986T>G NCBI36
NG_008472.1:g.25245A>C
NG_008472.2:g.25245A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.*61A>C MANE Select ENSP00000262340.5:n.*61A>C
ENST00000262340.5:c.*61A>C ENSP00000262340.5:n.*61A>C
NM_000329.2:c.*61A>C NP_000320.1:n.*61A>C
XM_017002027.1:c.*61A>C XP_016857516.1:n.*61A>C
NM_000329.3:c.*61A>C MANE Select NP_000320.1:n.*61A>C
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