Canonical Allele Identifier: CA382376557
Gene: MRE11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94476302T>G , CM000673.2:g.94476302T>G GRCh38
NC_000011.9:g.94209468T>G , CM000673.1:g.94209468T>G GRCh37
NC_000011.8:g.93849116T>G NCBI36
NG_007261.1:g.22573A>C , LRG_85:g.22573A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323929.8:c.646A>C MANE Select ENSP00000325863.4:p.Ile216Leu
ENST00000323929.7:c.646A>C ENSP00000325863.3:p.Ile216Leu
ENST00000323977.7:c.646A>C ENSP00000326094.3:p.Ile216Leu
ENST00000393241.8:c.646A>C ENSP00000376933.4:p.Ile216Leu
ENST00000407439.7:c.655A>C ENSP00000385614.3:p.Ile219Leu
ENST00000540013.5:c.646A>C ENSP00000440986.1:p.Ile216Leu
NM_005590.3:c.646A>C NP_005581.2:p.Ile216Leu
NM_005591.3:c.646A>C , LRG_85t1:c.646A>C NP_005582.1:p.Ile216Leu
XM_005274008.2:c.178A>C XP_005274065.1:p.Ile60Leu
XM_006718842.2:c.646A>C XP_006718905.1:p.Ile216Leu
XM_011542837.1:c.646A>C XP_011541139.1:p.Ile216Leu
XR_947828.1:n.942A>C
NM_001330347.1:c.646A>C NP_001317276.1:p.Ile216Leu
XM_005274008.3:c.178A>C XP_005274065.1:p.Ile60Leu
XM_006718842.3:c.646A>C XP_006718905.1:p.Ile216Leu
XM_011542837.2:c.646A>C XP_011541139.1:p.Ile216Leu
XM_017017772.1:c.646A>C XP_016873261.1:p.Ile216Leu
XR_947828.2:n.942A>C
NM_001330347.2:c.646A>C NP_001317276.1:p.Ile216Leu
NM_005590.4:c.646A>C NP_005581.2:p.Ile216Leu
NM_005591.4:c.646A>C MANE Select NP_005582.1:p.Ile216Leu