Canonical Allele Identifier: CA340747927

Gene: RPE65

Linked Data

• gnomAD v4: 1-68444638-C-A
• MyVariant Identifiers: chr1:g.68910321C>A (hg19) ; chr1:g.68444638C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444638C>A , CM000663.2:g.68444638C>A	GRCh38
NC_000001.10:g.68910321C>A , CM000663.1:g.68910321C>A	GRCh37
NC_000001.9:g.68682909C>A	NCBI36
NG_008472.1:g.10322G>T
NG_008472.2:g.10322G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.388G>T MANE Select	ENSP00000262340.5:p.Asp130Tyr
ENST00000262340.5:c.388G>T	ENSP00000262340.5:p.Asp130Tyr
NM_000329.2:c.388G>T	NP_000320.1:p.Asp130Tyr
XM_017002027.1:c.112G>T	XP_016857516.1:p.Asp38Tyr
NM_000329.3:c.388G>T MANE Select	NP_000320.1:p.Asp130Tyr