Canonical Allele Identifier: CA340748093

Gene: RPE65

Linked Data

• gnomAD v4: 1-68444780-A-G
• MyVariant Identifiers: chr1:g.68910463A>G (hg19) ; chr1:g.68444780A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444780A>G , CM000663.2:g.68444780A>G	GRCh38
NC_000001.10:g.68910463A>G , CM000663.1:g.68910463A>G	GRCh37
NC_000001.9:g.68683051A>G	NCBI36
NG_008472.1:g.10180T>C
NG_008472.2:g.10180T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.349T>C MANE Select	ENSP00000262340.5:p.Ser117Pro
ENST00000262340.5:c.349T>C	ENSP00000262340.5:p.Ser117Pro
NM_000329.2:c.349T>C	NP_000320.1:p.Ser117Pro
XM_017002027.1:c.73T>C	XP_016857516.1:p.Ser25Pro
NM_000329.3:c.349T>C MANE Select	NP_000320.1:p.Ser117Pro