Canonical Allele Identifier: CA340747613
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68910255T>A (hg19) chr1:g.68444572T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444572T>A , CM000663.2:g.68444572T>A GRCh38
NC_000001.10:g.68910255T>A , CM000663.1:g.68910255T>A GRCh37
NC_000001.9:g.68682843T>A NCBI36
NG_008472.1:g.10388A>T
NG_008472.2:g.10388A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.454A>T MANE Select ENSP00000262340.5:p.Ile152Phe
ENST00000262340.5:c.454A>T ENSP00000262340.5:p.Ile152Phe
NM_000329.2:c.454A>T NP_000320.1:p.Ile152Phe
XM_017002027.1:c.178A>T XP_016857516.1:p.Ile60Phe
NM_000329.3:c.454A>T MANE Select NP_000320.1:p.Ile152Phe
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