Canonical Allele Identifier: CA1173561349
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs544065979
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68439520C>A , CM000663.2:g.68439520C>A GRCh38
NC_000001.10:g.68905203C>A , CM000663.1:g.68905203C>A GRCh37
NC_000001.9:g.68677791C>A NCBI36
NG_008472.1:g.15440G>T
NG_008472.2:g.15440G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.725+41G>T MANE Select ENSP00000262340.5:n.725+41G>T
ENST00000262340.5:c.725+41G>T ENSP00000262340.5:n.725+41G>T
NM_000329.2:c.725+41G>T NP_000320.1:n.725+41G>T
XM_017002027.1:c.449+41G>T XP_016857516.1:n.449+41G>T
NM_000329.3:c.725+41G>T MANE Select NP_000320.1:n.725+41G>T
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