Canonical Allele Identifier: CA340741550
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 623371
ClinVar RCV Id: RCV000761520
dbSNP Id: rs1557595199
MyVariant Identifiers: chr1:g.68895612T>G (hg19) chr1:g.68429929T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429929T>G , CM000663.2:g.68429929T>G GRCh38
NC_000001.10:g.68895612T>G , CM000663.1:g.68895612T>G GRCh37
NC_000001.9:g.68668200T>G NCBI36
NG_008472.1:g.25031A>C
NG_008472.2:g.25031A>C

Transcript Alleles

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