Canonical Allele Identifier: CA2695465906
Gene: RERE HGNC NCBI

Linked Data

dbSNP Id: rs2124352171

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8355371G>A , CM000663.2:g.8355371G>A GRCh38
NC_000001.10:g.8415431G>A , CM000663.1:g.8415431G>A GRCh37
NC_000001.9:g.8338018G>A NCBI36
NG_047035.1:g.467321C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.3005+48C>T ENSP00000515651.1:n.3005+48C>T
ENST00000400908.7:c.4667+48C>T MANE Select ENSP00000383700.2:n.4667+48C>T
ENST00000337907.7:c.4667+48C>T ENSP00000338629.3:n.4667+48C>T
ENST00000377464.5:c.3863+48C>T ENSP00000366684.1:n.3863+48C>T
ENST00000400907.6:c.1721+48C>T ENSP00000383699.2:n.1721+48C>T
ENST00000400908.6:c.4667+48C>T ENSP00000383700.2:n.4667+48C>T
ENST00000476556.5:c.3005+48C>T ENSP00000422246.1:n.3005+48C>T
NM_001042681.1:c.4667+48C>T NP_001036146.1:n.4667+48C>T
NM_001042682.1:c.3005+48C>T NP_001036147.1:n.3005+48C>T
NM_012102.3:c.4667+48C>T NP_036234.3:n.4667+48C>T
XM_005263464.1:c.4667+48C>T XP_005263521.1:n.4667+48C>T
XM_005263466.1:c.3863+48C>T XP_005263523.1:n.3863+48C>T
XM_006710653.1:c.4667+48C>T XP_006710716.1:n.4667+48C>T
XM_011541510.1:c.4541+48C>T XP_011539812.1:n.4541+48C>T
XM_005263464.2:c.4667+48C>T XP_005263521.1:n.4667+48C>T
XM_011541510.2:c.4541+48C>T XP_011539812.1:n.4541+48C>T
XM_017001358.1:c.4667+48C>T XP_016856847.1:n.4667+48C>T
XM_017001359.1:c.4667+48C>T XP_016856848.1:n.4667+48C>T
NM_001042681.2:c.4667+48C>T MANE Select NP_001036146.1:n.4667+48C>T
NM_001042682.2:c.3005+48C>T NP_001036147.1:n.3005+48C>T
NM_012102.4:c.4667+48C>T NP_036234.3:n.4667+48C>T