Canonical Allele Identifier: CA338171241
Gene: RERE HGNC NCBI

Linked Data

dbSNP Id: rs1245424533
gnomAD v2: 1-8420457-T-G
gnomAD v3: 1-8360397-T-G
gnomAD v4: 1-8360397-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8360397T>G , CM000663.2:g.8360397T>G GRCh38
NC_000001.10:g.8420457T>G , CM000663.1:g.8420457T>G GRCh37
NC_000001.9:g.8343044T>G NCBI36
NG_047035.1:g.462295A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.1448A>C ENSP00000515651.1:p.His483Pro
ENST00000400908.7:c.3110A>C MANE Select ENSP00000383700.2:p.His1037Pro
ENST00000337907.7:c.3110A>C ENSP00000338629.3:p.His1037Pro
ENST00000377464.5:c.2306A>C ENSP00000366684.1:p.His769Pro
ENST00000400907.6:c.1540+4349A>C ENSP00000383699.2:n.1540+4349A>C
ENST00000400908.6:c.3110A>C ENSP00000383700.2:p.His1037Pro
ENST00000476556.5:c.1448A>C ENSP00000422246.1:p.His483Pro
ENST00000505225.1:c.307+1063A>C ENSP00000423451.1:n.307+1063A>C
NM_001042681.1:c.3110A>C NP_001036146.1:p.His1037Pro
NM_001042682.1:c.1448A>C NP_001036147.1:p.His483Pro
NM_012102.3:c.3110A>C NP_036234.3:p.His1037Pro
XM_005263464.1:c.3110A>C XP_005263521.1:p.His1037Pro
XM_005263466.1:c.2306A>C XP_005263523.1:p.His769Pro
XM_006710653.1:c.3110A>C XP_006710716.1:p.His1037Pro
XM_011541510.1:c.2984A>C XP_011539812.1:p.His995Pro
XM_011541511.1:c.3110A>C XP_011539813.1:p.His1037Pro
XM_005263464.2:c.3110A>C XP_005263521.1:p.His1037Pro
XM_011541510.2:c.2984A>C XP_011539812.1:p.His995Pro
XM_011541511.2:c.3110A>C XP_011539813.1:p.His1037Pro
XM_017001358.1:c.3110A>C XP_016856847.1:p.His1037Pro
XM_017001359.1:c.3110A>C XP_016856848.1:p.His1037Pro
NM_001042681.2:c.3110A>C MANE Select NP_001036146.1:p.His1037Pro
NM_001042682.2:c.1448A>C NP_001036147.1:p.His483Pro
NM_012102.4:c.3110A>C NP_036234.3:p.His1037Pro