Canonical Allele Identifier: CA418282756

Gene: RPE65

Linked Data

• MyVariant Identifiers: chr1:g.68910346A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444663A>G , CM000663.2:g.68444663A>G	GRCh38
NC_000001.10:g.68910346A>G , CM000663.1:g.68910346A>G	GRCh37
NC_000001.9:g.68682934A>G	NCBI36
NG_008472.1:g.10297T>C
NG_008472.2:g.10297T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.363T>C MANE Select	ENSP00000262340.5:p.Ser121=
ENST00000262340.5:c.363T>C	ENSP00000262340.5:p.Ser121=
NM_000329.2:c.363T>C	NP_000320.1:p.Ser121=
XM_017002027.1:c.87T>C	XP_016857516.1:p.Ser29=
NM_000329.3:c.363T>C MANE Select	NP_000320.1:p.Ser121=