Canonical Allele Identifier: CA338170258
Gene: RERE HGNC NCBI

Linked Data

dbSNP Id: rs1431471435
gnomAD v3: 1-8359793-C-T
gnomAD v4: 1-8359793-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8359793C>T , CM000663.2:g.8359793C>T GRCh38
NC_000001.10:g.8419853C>T , CM000663.1:g.8419853C>T GRCh37
NC_000001.9:g.8342440C>T NCBI36
NG_047035.1:g.462899G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.1927G>A ENSP00000515651.1:p.Glu643Lys
ENST00000400908.7:c.3589G>A MANE Select ENSP00000383700.2:p.Glu1197Lys
ENST00000337907.7:c.3589G>A ENSP00000338629.3:p.Glu1197Lys
ENST00000377464.5:c.2785G>A ENSP00000366684.1:p.Glu929Lys
ENST00000400907.6:c.1541-4194G>A ENSP00000383699.2:n.1541-4194G>A
ENST00000400908.6:c.3589G>A ENSP00000383700.2:p.Glu1197Lys
ENST00000476556.5:c.1927G>A ENSP00000422246.1:p.Glu643Lys
ENST00000505225.1:c.307+1667G>A ENSP00000423451.1:n.307+1667G>A
NM_001042681.1:c.3589G>A NP_001036146.1:p.Glu1197Lys
NM_001042682.1:c.1927G>A NP_001036147.1:p.Glu643Lys
NM_012102.3:c.3589G>A NP_036234.3:p.Glu1197Lys
XM_005263464.1:c.3589G>A XP_005263521.1:p.Glu1197Lys
XM_005263466.1:c.2785G>A XP_005263523.1:p.Glu929Lys
XM_006710653.1:c.3589G>A XP_006710716.1:p.Glu1197Lys
XM_011541510.1:c.3463G>A XP_011539812.1:p.Glu1155Lys
XM_011541511.1:c.3395+319G>A XP_011539813.1:n.3395+319G>A
XM_005263464.2:c.3589G>A XP_005263521.1:p.Glu1197Lys
XM_011541510.2:c.3463G>A XP_011539812.1:p.Glu1155Lys
XM_011541511.2:c.3395+319G>A XP_011539813.1:n.3395+319G>A
XM_017001358.1:c.3589G>A XP_016856847.1:p.Glu1197Lys
XM_017001359.1:c.3589G>A XP_016856848.1:p.Glu1197Lys
NM_001042681.2:c.3589G>A MANE Select NP_001036146.1:p.Glu1197Lys
NM_001042682.2:c.1927G>A NP_001036147.1:p.Glu643Lys
NM_012102.4:c.3589G>A NP_036234.3:p.Glu1197Lys