Canonical Allele Identifier: CA340748140

Gene: RPE65

Linked Data

• MyVariant Identifiers: chr1:g.68910472T>G (hg19) ; chr1:g.68444789T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444789T>G , CM000663.2:g.68444789T>G	GRCh38
NC_000001.10:g.68910472T>G , CM000663.1:g.68910472T>G	GRCh37
NC_000001.9:g.68683060T>G	NCBI36
NG_008472.1:g.10171A>C
NG_008472.2:g.10171A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.340A>C MANE Select	ENSP00000262340.5:p.Asn114His
ENST00000262340.5:c.340A>C	ENSP00000262340.5:p.Asn114His
NM_000329.2:c.340A>C	NP_000320.1:p.Asn114His
XM_017002027.1:c.64A>C	XP_016857516.1:p.Asn22His
NM_000329.3:c.340A>C MANE Select	NP_000320.1:p.Asn114His