Canonical Allele Identifier: CA571245
Gene: RERE HGNC NCBI

Linked Data

ClinVar Variation Id: 2358547
ClinVar RCV Id: RCV002983449
dbSNP Id: rs764049309
gnomAD v2: 1-8420418-G-A
gnomAD v3: 1-8360358-G-A
gnomAD v4: 1-8360358-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8360358G>A , CM000663.2:g.8360358G>A GRCh38
NC_000001.10:g.8420418G>A , CM000663.1:g.8420418G>A GRCh37
NC_000001.9:g.8343005G>A NCBI36
NG_047035.1:g.462334C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.1487C>T ENSP00000515651.1:p.Pro496Leu
ENST00000400908.7:c.3149C>T MANE Select ENSP00000383700.2:p.Pro1050Leu
ENST00000337907.7:c.3149C>T ENSP00000338629.3:p.Pro1050Leu
ENST00000377464.5:c.2345C>T ENSP00000366684.1:p.Pro782Leu
ENST00000400907.6:c.1540+4388C>T ENSP00000383699.2:n.1540+4388C>T
ENST00000400908.6:c.3149C>T ENSP00000383700.2:p.Pro1050Leu
ENST00000476556.5:c.1487C>T ENSP00000422246.1:p.Pro496Leu
ENST00000505225.1:c.307+1102C>T ENSP00000423451.1:n.307+1102C>T
NM_001042681.1:c.3149C>T NP_001036146.1:p.Pro1050Leu
NM_001042682.1:c.1487C>T NP_001036147.1:p.Pro496Leu
NM_012102.3:c.3149C>T NP_036234.3:p.Pro1050Leu
XM_005263464.1:c.3149C>T XP_005263521.1:p.Pro1050Leu
XM_005263466.1:c.2345C>T XP_005263523.1:p.Pro782Leu
XM_006710653.1:c.3149C>T XP_006710716.1:p.Pro1050Leu
XM_011541510.1:c.3023C>T XP_011539812.1:p.Pro1008Leu
XM_011541511.1:c.3149C>T XP_011539813.1:p.Pro1050Leu
XM_005263464.2:c.3149C>T XP_005263521.1:p.Pro1050Leu
XM_011541510.2:c.3023C>T XP_011539812.1:p.Pro1008Leu
XM_011541511.2:c.3149C>T XP_011539813.1:p.Pro1050Leu
XM_017001358.1:c.3149C>T XP_016856847.1:p.Pro1050Leu
XM_017001359.1:c.3149C>T XP_016856848.1:p.Pro1050Leu
NM_001042681.2:c.3149C>T MANE Select NP_001036146.1:p.Pro1050Leu
NM_001042682.2:c.1487C>T NP_001036147.1:p.Pro496Leu
NM_012102.4:c.3149C>T NP_036234.3:p.Pro1050Leu