Canonical Allele Identifier: CA1152320181
Gene: RERE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8358149C= , CM000663.2:g.8358149C= GRCh38
NC_000001.10:g.8418209C= , CM000663.1:g.8418209C= GRCh37
NC_000001.9:g.8340796C= NCBI36
NG_047035.1:g.464543G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.2677+47G= ENSP00000515651.1:n.2677+47G=
ENST00000400908.7:c.4339+47G= MANE Select ENSP00000383700.2:n.4339+47G=
ENST00000337907.7:c.4339+47G= ENSP00000338629.3:n.4339+47G=
ENST00000377464.5:c.3535+47G= ENSP00000366684.1:n.3535+47G=
ENST00000400907.6:c.1541-2550G= ENSP00000383699.2:n.1541-2550G=
ENST00000400908.6:c.4339+47G= ENSP00000383700.2:n.4339+47G=
ENST00000476556.5:c.2677+47G= ENSP00000422246.1:n.2677+47G=
ENST00000505225.1:c.308-1903G= ENSP00000423451.1:n.308-1903G=
NM_001042681.1:c.4339+47G= NP_001036146.1:n.4339+47G=
NM_001042682.1:c.2677+47G= NP_001036147.1:n.2677+47G=
NM_012102.3:c.4339+47G= NP_036234.3:n.4339+47G=
XM_005263464.1:c.4339+47G= XP_005263521.1:n.4339+47G=
XM_005263466.1:c.3535+47G= XP_005263523.1:n.3535+47G=
XM_006710653.1:c.4339+47G= XP_006710716.1:n.4339+47G=
XM_011541510.1:c.4213+47G= XP_011539812.1:n.4213+47G=
XM_005263464.2:c.4339+47G= XP_005263521.1:n.4339+47G=
XM_011541510.2:c.4213+47G= XP_011539812.1:n.4213+47G=
XM_017001358.1:c.4339+47G= XP_016856847.1:n.4339+47G=
XM_017001359.1:c.4339+47G= XP_016856848.1:n.4339+47G=
NM_001042681.2:c.4339+47G= MANE Select NP_001036146.1:n.4339+47G=
NM_001042682.2:c.2677+47G= NP_001036147.1:n.2677+47G=
NM_012102.4:c.4339+47G= NP_036234.3:n.4339+47G=