Canonical Allele Identifier: CA2744008987

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68429930G>C , CM000663.2:g.68429930G>C	GRCh38
NC_000001.10:g.68895613G>C , CM000663.1:g.68895613G>C	GRCh37
NC_000001.9:g.68668201G>C	NCBI36
NG_008472.1:g.25030C>G
NG_008472.2:g.25030C>G

Transcript Alleles

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