Canonical Allele Identifier: CA119930
Gene: MRE11 HGNC NCBI

Linked Data

ClinVar Variation Id: 8786
ClinVar RCV Id: RCV000009331 RCV000712327
dbSNP Id: rs137852763
MyVariant Identifiers: chr11:g.94209484C>G (hg19) chr11:g.94476318C>G (hg38)
PubMed: PMID:15574463
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94476318C>G , CM000673.2:g.94476318C>G GRCh38
NC_000011.9:g.94209484C>G , CM000673.1:g.94209484C>G GRCh37
NC_000011.8:g.93849132C>G NCBI36
NG_007261.1:g.22557G>C , LRG_85:g.22557G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000323929.8:c.630G>C MANE Select ENSP00000325863.4:p.Trp210Cys
ENST00000323929.7:c.630G>C ENSP00000325863.3:p.Trp210Cys
ENST00000323977.7:c.630G>C ENSP00000326094.3:p.Trp210Cys
ENST00000393241.8:c.630G>C ENSP00000376933.4:p.Trp210Cys
ENST00000407439.7:c.639G>C ENSP00000385614.3:p.Trp213Cys
ENST00000540013.5:c.630G>C ENSP00000440986.1:p.Trp210Cys
NM_005590.3:c.630G>C NP_005581.2:p.Trp210Cys
NM_005591.3:c.630G>C , LRG_85t1:c.630G>C NP_005582.1:p.Trp210Cys
XM_005274008.2:c.162G>C XP_005274065.1:p.Trp54Cys
XM_006718842.2:c.630G>C XP_006718905.1:p.Trp210Cys
XM_011542837.1:c.630G>C XP_011541139.1:p.Trp210Cys
XR_947828.1:n.926G>C
NM_001330347.1:c.630G>C NP_001317276.1:p.Trp210Cys
XM_005274008.3:c.162G>C XP_005274065.1:p.Trp54Cys
XM_006718842.3:c.630G>C XP_006718905.1:p.Trp210Cys
XM_011542837.2:c.630G>C XP_011541139.1:p.Trp210Cys
XM_017017772.1:c.630G>C XP_016873261.1:p.Trp210Cys
XR_947828.2:n.926G>C
NM_001330347.2:c.630G>C NP_001317276.1:p.Trp210Cys
NM_005590.4:c.630G>C NP_005581.2:p.Trp210Cys
NM_005591.4:c.630G>C MANE Select NP_005582.1:p.Trp210Cys
Search 100 bp 5'
Search 100 bp 3'