Canonical Allele Identifier: CA738202005
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1275381457
gnomAD v3: 1-68439519-A-C
gnomAD v4: 1-68439519-A-C
MyVariant Identifiers: chr1:g.68905202A>C (hg19) chr1:g.68439519A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68439519A>C , CM000663.2:g.68439519A>C GRCh38
NC_000001.10:g.68905202A>C , CM000663.1:g.68905202A>C GRCh37
NC_000001.9:g.68677790A>C NCBI36
NG_008472.1:g.15441T>G
NG_008472.2:g.15441T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.725+42T>G MANE Select ENSP00000262340.5:n.725+42T>G
ENST00000262340.5:c.725+42T>G ENSP00000262340.5:n.725+42T>G
NM_000329.2:c.725+42T>G NP_000320.1:n.725+42T>G
XM_017002027.1:c.449+42T>G XP_016857516.1:n.449+42T>G
NM_000329.3:c.725+42T>G MANE Select NP_000320.1:n.725+42T>G
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