Canonical Allele Identifier: CA1152318880
Gene: RERE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8355552A= , CM000663.2:g.8355552A= GRCh38
NC_000001.10:g.8415612A= , CM000663.1:g.8415612A= GRCh37
NC_000001.9:g.8338199A= NCBI36
NG_047035.1:g.467140T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.2872T= ENSP00000515651.1:p.Ser958=
ENST00000400908.7:c.4534T= MANE Select ENSP00000383700.2:p.Ser1512=
ENST00000337907.7:c.4534T= ENSP00000338629.3:p.Ser1512=
ENST00000377464.5:c.3730T= ENSP00000366684.1:p.Ser1244=
ENST00000400907.6:c.1588T= ENSP00000383699.2:p.Ser530=
ENST00000400908.6:c.4534T= ENSP00000383700.2:p.Ser1512=
ENST00000476556.5:c.2872T= ENSP00000422246.1:p.Ser958=
ENST00000505225.1:c.502T= ENSP00000423451.1:p.Ser168=
NM_001042681.1:c.4534T= NP_001036146.1:p.Ser1512=
NM_001042682.1:c.2872T= NP_001036147.1:p.Ser958=
NM_012102.3:c.4534T= NP_036234.3:p.Ser1512=
XM_005263464.1:c.4534T= XP_005263521.1:p.Ser1512=
XM_005263466.1:c.3730T= XP_005263523.1:p.Ser1244=
XM_006710653.1:c.4534T= XP_006710716.1:p.Ser1512=
XM_011541510.1:c.4408T= XP_011539812.1:p.Ser1470=
XM_005263464.2:c.4534T= XP_005263521.1:p.Ser1512=
XM_011541510.2:c.4408T= XP_011539812.1:p.Ser1470=
XM_017001358.1:c.4534T= XP_016856847.1:p.Ser1512=
XM_017001359.1:c.4534T= XP_016856848.1:p.Ser1512=
NM_001042681.2:c.4534T= MANE Select NP_001036146.1:p.Ser1512=
NM_001042682.2:c.2872T= NP_001036147.1:p.Ser958=
NM_012102.4:c.4534T= NP_036234.3:p.Ser1512=