Canonical Allele Identifier: CA382371617
Gene: MRE11 HGNC NCBI

Linked Data

ClinVar Variation Id: 481768
dbSNP Id: rs774145193

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94459412T>A , CM000673.2:g.94459412T>A GRCh38
NC_000011.9:g.94192578T>A , CM000673.1:g.94192578T>A GRCh37
NC_000011.8:g.93832226T>A NCBI36
NG_007261.1:g.39463A>T , LRG_85:g.39463A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323929.8:c.1496A>T MANE Select ENSP00000325863.4:p.Glu499Val
ENST00000323929.7:c.1496A>T ENSP00000325863.3:p.Glu499Val
ENST00000323977.7:c.1496A>T ENSP00000326094.3:p.Glu499Val
ENST00000393241.8:c.1496A>T ENSP00000376933.4:p.Glu499Val
ENST00000407439.7:c.1505A>T ENSP00000385614.3:p.Glu502Val
NM_005590.3:c.1496A>T NP_005581.2:p.Glu499Val
NM_005591.3:c.1496A>T , LRG_85t1:c.1496A>T NP_005582.1:p.Glu499Val
XM_005274008.2:c.1028A>T XP_005274065.1:p.Glu343Val
XM_006718842.2:c.1496A>T XP_006718905.1:p.Glu499Val
XM_011542837.1:c.1496A>T XP_011541139.1:p.Glu499Val
XR_947828.1:n.1792A>T
NM_001330347.1:c.1496A>T NP_001317276.1:p.Glu499Val
XM_005274008.3:c.1028A>T XP_005274065.1:p.Glu343Val
XM_006718842.3:c.1496A>T XP_006718905.1:p.Glu499Val
XM_011542837.2:c.1496A>T XP_011541139.1:p.Glu499Val
XM_017017772.1:c.1496A>T XP_016873261.1:p.Glu499Val
XR_947828.2:n.1792A>T
NM_001330347.2:c.1496A>T NP_001317276.1:p.Glu499Val
NM_005590.4:c.1496A>T NP_005581.2:p.Glu499Val
NM_005591.4:c.1496A>T MANE Select NP_005582.1:p.Glu499Val