Canonical Allele Identifier: CA340744095

Gene: RPE65

Linked Data

• gnomAD v4: 1-68438219-T-A
• MyVariant Identifiers: chr1:g.68903902T>A (hg19) ; chr1:g.68438219T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68438219T>A , CM000663.2:g.68438219T>A	GRCh38
NC_000001.10:g.68903902T>A , CM000663.1:g.68903902T>A	GRCh37
NC_000001.9:g.68676490T>A	NCBI36
NG_008472.1:g.16741A>T
NG_008472.2:g.16741A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1096A>T MANE Select	ENSP00000262340.5:p.Arg366Trp
ENST00000262340.5:c.1096A>T	ENSP00000262340.5:p.Arg366Trp
NM_000329.2:c.1096A>T	NP_000320.1:p.Arg366Trp
XM_017002027.1:c.820A>T	XP_016857516.1:p.Arg274Trp
NM_000329.3:c.1096A>T MANE Select	NP_000320.1:p.Arg366Trp