Canonical Allele Identifier: CA340747946
Gene: RPE65 HGNC NCBI

Linked Data

gnomAD v4: 1-68444647-C-T
COSMIC: COSM4912782
MyVariant Identifiers: chr1:g.68910330C>T (hg19) chr1:g.68444647C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444647C>T , CM000663.2:g.68444647C>T GRCh38
NC_000001.10:g.68910330C>T , CM000663.1:g.68910330C>T GRCh37
NC_000001.9:g.68682918C>T NCBI36
NG_008472.1:g.10313G>A
NG_008472.2:g.10313G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.379G>A MANE Select ENSP00000262340.5:p.Glu127Lys
ENST00000262340.5:c.379G>A ENSP00000262340.5:p.Glu127Lys
NM_000329.2:c.379G>A NP_000320.1:p.Glu127Lys
XM_017002027.1:c.103G>A XP_016857516.1:p.Glu35Lys
NM_000329.3:c.379G>A MANE Select NP_000320.1:p.Glu127Lys
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