Canonical Allele Identifier: CA340747618
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1294404717
gnomAD v4: 1-68444572-T-G
MyVariant Identifiers: chr1:g.68910255T>G (hg19) chr1:g.68444572T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444572T>G , CM000663.2:g.68444572T>G GRCh38
NC_000001.10:g.68910255T>G , CM000663.1:g.68910255T>G GRCh37
NC_000001.9:g.68682843T>G NCBI36
NG_008472.1:g.10388A>C
NG_008472.2:g.10388A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.454A>C MANE Select ENSP00000262340.5:p.Ile152Leu
ENST00000262340.5:c.454A>C ENSP00000262340.5:p.Ile152Leu
NM_000329.2:c.454A>C NP_000320.1:p.Ile152Leu
XM_017002027.1:c.178A>C XP_016857516.1:p.Ile60Leu
NM_000329.3:c.454A>C MANE Select NP_000320.1:p.Ile152Leu
Search 100 bp 5'
Search 100 bp 3'