Canonical Allele Identifier: CA16603765
Gene: RERE HGNC NCBI

Linked Data

ClinVar Variation Id: 379827
ClinVar RCV Id: RCV000441094
dbSNP Id: rs1057520747
MyVariant Identifiers: chr1:g.8418309T>C (hg19) chr1:g.8358249T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8358249T>C , CM000663.2:g.8358249T>C GRCh38
NC_000001.10:g.8418309T>C , CM000663.1:g.8418309T>C GRCh37
NC_000001.9:g.8340896T>C NCBI36
NG_047035.1:g.464443A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000465125.2:c.2624A>G ENSP00000515651.1:p.His875Arg
ENST00000400908.7:c.4286A>G MANE Select ENSP00000383700.2:p.His1429Arg
ENST00000337907.7:c.4286A>G ENSP00000338629.3:p.His1429Arg
ENST00000377464.5:c.3482A>G ENSP00000366684.1:p.His1161Arg
ENST00000400907.6:c.1541-2650A>G ENSP00000383699.2:n.1541-2650A>G
ENST00000400908.6:c.4286A>G ENSP00000383700.2:p.His1429Arg
ENST00000476556.5:c.2624A>G ENSP00000422246.1:p.His875Arg
ENST00000505225.1:c.308-2003A>G ENSP00000423451.1:n.308-2003A>G
NM_001042681.1:c.4286A>G NP_001036146.1:p.His1429Arg
NM_001042682.1:c.2624A>G NP_001036147.1:p.His875Arg
NM_012102.3:c.4286A>G NP_036234.3:p.His1429Arg
XM_005263464.1:c.4286A>G XP_005263521.1:p.His1429Arg
XM_005263466.1:c.3482A>G XP_005263523.1:p.His1161Arg
XM_006710653.1:c.4286A>G XP_006710716.1:p.His1429Arg
XM_011541510.1:c.4160A>G XP_011539812.1:p.His1387Arg
XM_005263464.2:c.4286A>G XP_005263521.1:p.His1429Arg
XM_011541510.2:c.4160A>G XP_011539812.1:p.His1387Arg
XM_017001358.1:c.4286A>G XP_016856847.1:p.His1429Arg
XM_017001359.1:c.4286A>G XP_016856848.1:p.His1429Arg
NM_001042681.2:c.4286A>G MANE Select NP_001036146.1:p.His1429Arg
NM_001042682.2:c.2624A>G NP_001036147.1:p.His875Arg
NM_012102.4:c.4286A>G NP_036234.3:p.His1429Arg
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