Canonical Allele Identifier: CA17695069
Gene: RERE HGNC NCBI

Linked Data

ClinVar Variation Id: 3153014
ClinVar RCV Id: RCV004445915
dbSNP Id: rs1006002943
gnomAD v2: 1-8420456-G-C
gnomAD v3: 1-8360396-G-C
gnomAD v4: 1-8360396-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8360396G>C , CM000663.2:g.8360396G>C GRCh38
NC_000001.10:g.8420456G>C , CM000663.1:g.8420456G>C GRCh37
NC_000001.9:g.8343043G>C NCBI36
NG_047035.1:g.462296C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.1449C>G ENSP00000515651.1:p.His483Gln
ENST00000400908.7:c.3111C>G MANE Select ENSP00000383700.2:p.His1037Gln
ENST00000337907.7:c.3111C>G ENSP00000338629.3:p.His1037Gln
ENST00000377464.5:c.2307C>G ENSP00000366684.1:p.His769Gln
ENST00000400907.6:c.1540+4350C>G ENSP00000383699.2:n.1540+4350C>G
ENST00000400908.6:c.3111C>G ENSP00000383700.2:p.His1037Gln
ENST00000476556.5:c.1449C>G ENSP00000422246.1:p.His483Gln
ENST00000505225.1:c.307+1064C>G ENSP00000423451.1:n.307+1064C>G
NM_001042681.1:c.3111C>G NP_001036146.1:p.His1037Gln
NM_001042682.1:c.1449C>G NP_001036147.1:p.His483Gln
NM_012102.3:c.3111C>G NP_036234.3:p.His1037Gln
XM_005263464.1:c.3111C>G XP_005263521.1:p.His1037Gln
XM_005263466.1:c.2307C>G XP_005263523.1:p.His769Gln
XM_006710653.1:c.3111C>G XP_006710716.1:p.His1037Gln
XM_011541510.1:c.2985C>G XP_011539812.1:p.His995Gln
XM_011541511.1:c.3111C>G XP_011539813.1:p.His1037Gln
XM_005263464.2:c.3111C>G XP_005263521.1:p.His1037Gln
XM_011541510.2:c.2985C>G XP_011539812.1:p.His995Gln
XM_011541511.2:c.3111C>G XP_011539813.1:p.His1037Gln
XM_017001358.1:c.3111C>G XP_016856847.1:p.His1037Gln
XM_017001359.1:c.3111C>G XP_016856848.1:p.His1037Gln
NM_001042681.2:c.3111C>G MANE Select NP_001036146.1:p.His1037Gln
NM_001042682.2:c.1449C>G NP_001036147.1:p.His483Gln
NM_012102.4:c.3111C>G NP_036234.3:p.His1037Gln