Canonical Allele Identifier: CA340747672

Gene: RPE65

Linked Data

• gnomAD v4: 1-68444580-G-T
• MyVariant Identifiers: chr1:g.68910263G>T (hg19) ; chr1:g.68444580G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444580G>T , CM000663.2:g.68444580G>T	GRCh38
NC_000001.10:g.68910263G>T , CM000663.1:g.68910263G>T	GRCh37
NC_000001.9:g.68682851G>T	NCBI36
NG_008472.1:g.10380C>A
NG_008472.2:g.10380C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262340.6:c.446C>A MANE Select	ENSP00000262340.5:p.Thr149Asn
ENST00000262340.5:c.446C>A	ENSP00000262340.5:p.Thr149Asn
NM_000329.2:c.446C>A	NP_000320.1:p.Thr149Asn
XM_017002027.1:c.170C>A	XP_016857516.1:p.Thr57Asn
NM_000329.3:c.446C>A MANE Select	NP_000320.1:p.Thr149Asn