Canonical Allele Identifier: CA340744075

Gene: RPE65

Linked Data

• MyVariant Identifiers: chr1:g.68903897T>G (hg19) ; chr1:g.68438214T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68438214T>G , CM000663.2:g.68438214T>G	GRCh38
NC_000001.10:g.68903897T>G , CM000663.1:g.68903897T>G	GRCh37
NC_000001.9:g.68676485T>G	NCBI36
NG_008472.1:g.16746A>C
NG_008472.2:g.16746A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1101A>C MANE Select	ENSP00000262340.5:p.Arg367Ser
ENST00000262340.5:c.1101A>C	ENSP00000262340.5:p.Arg367Ser
NM_000329.2:c.1101A>C	NP_000320.1:p.Arg367Ser
XM_017002027.1:c.825A>C	XP_016857516.1:p.Arg275Ser
NM_000329.3:c.1101A>C MANE Select	NP_000320.1:p.Arg367Ser