Canonical Allele Identifier: CA340747615
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1294404717
gnomAD v4: 1-68444572-T-C
MyVariant Identifiers: chr1:g.68910255T>C (hg19) chr1:g.68444572T>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.454A>G MANE Select ENSP00000262340.5:p.Ile152Val
ENST00000262340.5:c.454A>G ENSP00000262340.5:p.Ile152Val
NM_000329.2:c.454A>G NP_000320.1:p.Ile152Val
XM_017002027.1:c.178A>G XP_016857516.1:p.Ile60Val
NM_000329.3:c.454A>G MANE Select NP_000320.1:p.Ile152Val
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