Canonical Allele Identifier: CA340747950

Gene: RPE65

Linked Data

• MyVariant Identifiers: chr1:g.68910333C>A (hg19) ; chr1:g.68444650C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444650C>A , CM000663.2:g.68444650C>A	GRCh38
NC_000001.10:g.68910333C>A , CM000663.1:g.68910333C>A	GRCh37
NC_000001.9:g.68682921C>A	NCBI36
NG_008472.1:g.10310G>T
NG_008472.2:g.10310G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.376G>T MANE Select	ENSP00000262340.5:p.Val126Leu
ENST00000262340.5:c.376G>T	ENSP00000262340.5:p.Val126Leu
NM_000329.2:c.376G>T	NP_000320.1:p.Val126Leu
XM_017002027.1:c.100G>T	XP_016857516.1:p.Val34Leu
NM_000329.3:c.376G>T MANE Select	NP_000320.1:p.Val126Leu