Canonical Allele Identifier: CA340747687

Gene: RPE65

Linked Data

• gnomAD v4: 1-68444583-T-C
• MyVariant Identifiers: chr1:g.68910266T>C (hg19) ; chr1:g.68444583T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444583T>C , CM000663.2:g.68444583T>C	GRCh38
NC_000001.10:g.68910266T>C , CM000663.1:g.68910266T>C	GRCh37
NC_000001.9:g.68682854T>C	NCBI36
NG_008472.1:g.10377A>G
NG_008472.2:g.10377A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262340.6:c.443A>G MANE Select	ENSP00000262340.5:p.Glu148Gly
ENST00000262340.5:c.443A>G	ENSP00000262340.5:p.Glu148Gly
NM_000329.2:c.443A>G	NP_000320.1:p.Glu148Gly
XM_017002027.1:c.167A>G	XP_016857516.1:p.Glu56Gly
NM_000329.3:c.443A>G MANE Select	NP_000320.1:p.Glu148Gly