Canonical Allele Identifier: CA570868
Gene: RERE HGNC NCBI

Linked Data

dbSNP Id: rs368040659
gnomAD v2: 1-8418382-G-A
gnomAD v4: 1-8358322-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8358322G>A , CM000663.2:g.8358322G>A GRCh38
NC_000001.10:g.8418382G>A , CM000663.1:g.8418382G>A GRCh37
NC_000001.9:g.8340969G>A NCBI36
NG_047035.1:g.464370C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.2551C>T ENSP00000515651.1:p.Arg851Cys
ENST00000400908.7:c.4213C>T MANE Select ENSP00000383700.2:p.Arg1405Cys
ENST00000337907.7:c.4213C>T ENSP00000338629.3:p.Arg1405Cys
ENST00000377464.5:c.3409C>T ENSP00000366684.1:p.Arg1137Cys
ENST00000400907.6:c.1541-2723C>T ENSP00000383699.2:n.1541-2723C>T
ENST00000400908.6:c.4213C>T ENSP00000383700.2:p.Arg1405Cys
ENST00000476556.5:c.2551C>T ENSP00000422246.1:p.Arg851Cys
ENST00000505225.1:c.308-2076C>T ENSP00000423451.1:n.308-2076C>T
NM_001042681.1:c.4213C>T NP_001036146.1:p.Arg1405Cys
NM_001042682.1:c.2551C>T NP_001036147.1:p.Arg851Cys
NM_012102.3:c.4213C>T NP_036234.3:p.Arg1405Cys
XM_005263464.1:c.4213C>T XP_005263521.1:p.Arg1405Cys
XM_005263466.1:c.3409C>T XP_005263523.1:p.Arg1137Cys
XM_006710653.1:c.4213C>T XP_006710716.1:p.Arg1405Cys
XM_011541510.1:c.4087C>T XP_011539812.1:p.Arg1363Cys
XM_005263464.2:c.4213C>T XP_005263521.1:p.Arg1405Cys
XM_011541510.2:c.4087C>T XP_011539812.1:p.Arg1363Cys
XM_017001358.1:c.4213C>T XP_016856847.1:p.Arg1405Cys
XM_017001359.1:c.4213C>T XP_016856848.1:p.Arg1405Cys
NM_001042681.2:c.4213C>T MANE Select NP_001036146.1:p.Arg1405Cys
NM_001042682.2:c.2551C>T NP_001036147.1:p.Arg851Cys
NM_012102.4:c.4213C>T NP_036234.3:p.Arg1405Cys