Canonical Allele Identifier: CA340747931

Gene: RPE65

Linked Data

• MyVariant Identifiers: chr1:g.68910324T>A (hg19) ; chr1:g.68444641T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444641T>A , CM000663.2:g.68444641T>A	GRCh38
NC_000001.10:g.68910324T>A , CM000663.1:g.68910324T>A	GRCh37
NC_000001.9:g.68682912T>A	NCBI36
NG_008472.1:g.10319A>T
NG_008472.2:g.10319A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.385A>T MANE Select	ENSP00000262340.5:p.Thr129Ser
ENST00000262340.5:c.385A>T	ENSP00000262340.5:p.Thr129Ser
NM_000329.2:c.385A>T	NP_000320.1:p.Thr129Ser
XM_017002027.1:c.109A>T	XP_016857516.1:p.Thr37Ser
NM_000329.3:c.385A>T MANE Select	NP_000320.1:p.Thr129Ser