Canonical Allele Identifier: CA340747632

Gene: RPE65

Linked Data

• gnomAD v4: 1-68444574-A-T
• MyVariant Identifiers: chr1:g.68910257A>T (hg19) ; chr1:g.68444574A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444574A>T , CM000663.2:g.68444574A>T	GRCh38
NC_000001.10:g.68910257A>T , CM000663.1:g.68910257A>T	GRCh37
NC_000001.9:g.68682845A>T	NCBI36
NG_008472.1:g.10386T>A
NG_008472.2:g.10386T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262340.6:c.452T>A MANE Select	ENSP00000262340.5:p.Phe151Tyr
ENST00000262340.5:c.452T>A	ENSP00000262340.5:p.Phe151Tyr
NM_000329.2:c.452T>A	NP_000320.1:p.Phe151Tyr
XM_017002027.1:c.176T>A	XP_016857516.1:p.Phe59Tyr
NM_000329.3:c.452T>A MANE Select	NP_000320.1:p.Phe151Tyr