Canonical Allele Identifier: CA338171175
Gene: RERE HGNC NCBI

Linked Data

ClinVar Variation Id: 3031280
dbSNP Id: rs1453239884
gnomAD v3: 1-8360364-G-A
gnomAD v4: 1-8360364-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8360364G>A , CM000663.2:g.8360364G>A GRCh38
NC_000001.10:g.8420424G>A , CM000663.1:g.8420424G>A GRCh37
NC_000001.9:g.8343011G>A NCBI36
NG_047035.1:g.462328C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.1481C>T ENSP00000515651.1:p.Thr494Ile
ENST00000400908.7:c.3143C>T MANE Select ENSP00000383700.2:p.Thr1048Ile
ENST00000337907.7:c.3143C>T ENSP00000338629.3:p.Thr1048Ile
ENST00000377464.5:c.2339C>T ENSP00000366684.1:p.Thr780Ile
ENST00000400907.6:c.1540+4382C>T ENSP00000383699.2:n.1540+4382C>T
ENST00000400908.6:c.3143C>T ENSP00000383700.2:p.Thr1048Ile
ENST00000476556.5:c.1481C>T ENSP00000422246.1:p.Thr494Ile
ENST00000505225.1:c.307+1096C>T ENSP00000423451.1:n.307+1096C>T
NM_001042681.1:c.3143C>T NP_001036146.1:p.Thr1048Ile
NM_001042682.1:c.1481C>T NP_001036147.1:p.Thr494Ile
NM_012102.3:c.3143C>T NP_036234.3:p.Thr1048Ile
XM_005263464.1:c.3143C>T XP_005263521.1:p.Thr1048Ile
XM_005263466.1:c.2339C>T XP_005263523.1:p.Thr780Ile
XM_006710653.1:c.3143C>T XP_006710716.1:p.Thr1048Ile
XM_011541510.1:c.3017C>T XP_011539812.1:p.Thr1006Ile
XM_011541511.1:c.3143C>T XP_011539813.1:p.Thr1048Ile
XM_005263464.2:c.3143C>T XP_005263521.1:p.Thr1048Ile
XM_011541510.2:c.3017C>T XP_011539812.1:p.Thr1006Ile
XM_011541511.2:c.3143C>T XP_011539813.1:p.Thr1048Ile
XM_017001358.1:c.3143C>T XP_016856847.1:p.Thr1048Ile
XM_017001359.1:c.3143C>T XP_016856848.1:p.Thr1048Ile
NM_001042681.2:c.3143C>T MANE Select NP_001036146.1:p.Thr1048Ile
NM_001042682.2:c.1481C>T NP_001036147.1:p.Thr494Ile
NM_012102.4:c.3143C>T NP_036234.3:p.Thr1048Ile