Canonical Allele Identifier: CA1152321109
Gene: RERE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8359947G= , CM000663.2:g.8359947G= GRCh38
NC_000001.10:g.8420007G= , CM000663.1:g.8420007G= GRCh37
NC_000001.9:g.8342594G= NCBI36
NG_047035.1:g.462745C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.1773C= ENSP00000515651.1:p.Ala591=
ENST00000400908.7:c.3435C= MANE Select ENSP00000383700.2:p.Ala1145=
ENST00000337907.7:c.3435C= ENSP00000338629.3:p.Ala1145=
ENST00000377464.5:c.2631C= ENSP00000366684.1:p.Ala877=
ENST00000400907.6:c.1541-4348C= ENSP00000383699.2:n.1541-4348C=
ENST00000400908.6:c.3435C= ENSP00000383700.2:p.Ala1145=
ENST00000476556.5:c.1773C= ENSP00000422246.1:p.Ala591=
ENST00000505225.1:c.307+1513C= ENSP00000423451.1:n.307+1513C=
NM_001042681.1:c.3435C= NP_001036146.1:p.Ala1145=
NM_001042682.1:c.1773C= NP_001036147.1:p.Ala591=
NM_012102.3:c.3435C= NP_036234.3:p.Ala1145=
XM_005263464.1:c.3435C= XP_005263521.1:p.Ala1145=
XM_005263466.1:c.2631C= XP_005263523.1:p.Ala877=
XM_006710653.1:c.3435C= XP_006710716.1:p.Ala1145=
XM_011541510.1:c.3309C= XP_011539812.1:p.Ala1103=
XM_011541511.1:c.3395+165C= XP_011539813.1:n.3395+165C=
XM_005263464.2:c.3435C= XP_005263521.1:p.Ala1145=
XM_011541510.2:c.3309C= XP_011539812.1:p.Ala1103=
XM_011541511.2:c.3395+165C= XP_011539813.1:n.3395+165C=
XM_017001358.1:c.3435C= XP_016856847.1:p.Ala1145=
XM_017001359.1:c.3435C= XP_016856848.1:p.Ala1145=
NM_001042681.2:c.3435C= MANE Select NP_001036146.1:p.Ala1145=
NM_001042682.2:c.1773C= NP_001036147.1:p.Ala591=
NM_012102.4:c.3435C= NP_036234.3:p.Ala1145=