Canonical Allele Identifier: CA2742377775
Gene: RERE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8387766C>T , CM000663.2:g.8387766C>T GRCh38
NC_000001.10:g.8447826C>T , CM000663.1:g.8447826C>T GRCh37
NC_000001.9:g.8370413C>T NCBI36
NG_047035.1:g.434926G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.-378-21792G>A ENSP00000515651.1:n.-378-21792G>A
ENST00000400908.7:c.1285-21792G>A MANE Select ENSP00000383700.2:n.1285-21792G>A
ENST00000656437.1:c.1285-21792G>A ENSP00000499322.1:n.1285-21792G>A
ENST00000337907.7:c.1285-21792G>A ENSP00000338629.3:n.1285-21792G>A
ENST00000377464.5:c.481-21792G>A ENSP00000366684.1:n.481-21792G>A
ENST00000400907.6:c.1285-21792G>A ENSP00000383699.2:n.1285-21792G>A
ENST00000400908.6:c.1285-21792G>A ENSP00000383700.2:n.1285-21792G>A
ENST00000460659.5:n.335-21792G>A
ENST00000465125.1:n.302-21792G>A
ENST00000476556.5:c.-378-21792G>A ENSP00000422246.1:n.-378-21792G>A
ENST00000488215.5:c.-378-21792G>A ENSP00000464847.1:n.-378-21792G>A
ENST00000492766.5:n.269-21792G>A
NM_001042681.1:c.1285-21792G>A NP_001036146.1:n.1285-21792G>A
NM_001042682.1:c.-378-21792G>A NP_001036147.1:n.-378-21792G>A
NM_012102.3:c.1285-21792G>A NP_036234.3:n.1285-21792G>A
XM_005263464.1:c.1285-21792G>A XP_005263521.1:n.1285-21792G>A
XM_005263466.1:c.481-21792G>A XP_005263523.1:n.481-21792G>A
XM_006710653.1:c.1285-21792G>A XP_006710716.1:n.1285-21792G>A
XM_011541510.1:c.1159-21792G>A XP_011539812.1:n.1159-21792G>A
XM_011541511.1:c.1285-21792G>A XP_011539813.1:n.1285-21792G>A
XM_005263464.2:c.1285-21792G>A XP_005263521.1:n.1285-21792G>A
XM_011541510.2:c.1159-21792G>A XP_011539812.1:n.1159-21792G>A
XM_011541511.2:c.1285-21792G>A XP_011539813.1:n.1285-21792G>A
XM_017001358.1:c.1285-21792G>A XP_016856847.1:n.1285-21792G>A
XM_017001359.1:c.1285-21792G>A XP_016856848.1:n.1285-21792G>A
NM_001042681.2:c.1285-21792G>A MANE Select NP_001036146.1:n.1285-21792G>A
NM_001042682.2:c.-378-21792G>A NP_001036147.1:n.-378-21792G>A
NM_012102.4:c.1285-21792G>A NP_036234.3:n.1285-21792G>A