Canonical Allele Identifier: CA1152321196
Gene: RERE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8360132A= , CM000663.2:g.8360132A= GRCh38
NC_000001.10:g.8420192A= , CM000663.1:g.8420192A= GRCh37
NC_000001.9:g.8342779A= NCBI36
NG_047035.1:g.462560T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.1713T= ENSP00000515651.1:p.Ser571=
ENST00000400908.7:c.3375T= MANE Select ENSP00000383700.2:p.Ser1125=
ENST00000337907.7:c.3375T= ENSP00000338629.3:p.Ser1125=
ENST00000377464.5:c.2571T= ENSP00000366684.1:p.Ser857=
ENST00000400907.6:c.1541-4533T= ENSP00000383699.2:n.1541-4533T=
ENST00000400908.6:c.3375T= ENSP00000383700.2:p.Ser1125=
ENST00000476556.5:c.1713T= ENSP00000422246.1:p.Ser571=
ENST00000505225.1:c.307+1328T= ENSP00000423451.1:n.307+1328T=
NM_001042681.1:c.3375T= NP_001036146.1:p.Ser1125=
NM_001042682.1:c.1713T= NP_001036147.1:p.Ser571=
NM_012102.3:c.3375T= NP_036234.3:p.Ser1125=
XM_005263464.1:c.3375T= XP_005263521.1:p.Ser1125=
XM_005263466.1:c.2571T= XP_005263523.1:p.Ser857=
XM_006710653.1:c.3375T= XP_006710716.1:p.Ser1125=
XM_011541510.1:c.3249T= XP_011539812.1:p.Ser1083=
XM_011541511.1:c.3375T= XP_011539813.1:p.Ser1125=
XM_005263464.2:c.3375T= XP_005263521.1:p.Ser1125=
XM_011541510.2:c.3249T= XP_011539812.1:p.Ser1083=
XM_011541511.2:c.3375T= XP_011539813.1:p.Ser1125=
XM_017001358.1:c.3375T= XP_016856847.1:p.Ser1125=
XM_017001359.1:c.3375T= XP_016856848.1:p.Ser1125=
NM_001042681.2:c.3375T= MANE Select NP_001036146.1:p.Ser1125=
NM_001042682.2:c.1713T= NP_001036147.1:p.Ser571=
NM_012102.4:c.3375T= NP_036234.3:p.Ser1125=