Canonical Allele Identifier: CA6235353
Gene: MRE11 HGNC NCBI

Linked Data

ClinVar Variation Id: 826106
ClinVar RCV Id: RCV001024774
dbSNP Id: rs758547697

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94476349A>G , CM000673.2:g.94476349A>G GRCh38
NC_000011.9:g.94209515A>G , CM000673.1:g.94209515A>G GRCh37
NC_000011.8:g.93849163A>G NCBI36
NG_007261.1:g.22526T>C , LRG_85:g.22526T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323929.8:c.599T>C MANE Select ENSP00000325863.4:p.Met200Thr
ENST00000323929.7:c.599T>C ENSP00000325863.3:p.Met200Thr
ENST00000323977.7:c.599T>C ENSP00000326094.3:p.Met200Thr
ENST00000393241.8:c.599T>C ENSP00000376933.4:p.Met200Thr
ENST00000407439.7:c.608T>C ENSP00000385614.3:p.Met203Thr
ENST00000540013.5:c.599T>C ENSP00000440986.1:p.Met200Thr
NM_005590.3:c.599T>C NP_005581.2:p.Met200Thr
NM_005591.3:c.599T>C , LRG_85t1:c.599T>C NP_005582.1:p.Met200Thr
XM_005274008.2:c.131T>C XP_005274065.1:p.Met44Thr
XM_006718842.2:c.599T>C XP_006718905.1:p.Met200Thr
XM_011542837.1:c.599T>C XP_011541139.1:p.Met200Thr
XR_947828.1:n.895T>C
NM_001330347.1:c.599T>C NP_001317276.1:p.Met200Thr
XM_005274008.3:c.131T>C XP_005274065.1:p.Met44Thr
XM_006718842.3:c.599T>C XP_006718905.1:p.Met200Thr
XM_011542837.2:c.599T>C XP_011541139.1:p.Met200Thr
XM_017017772.1:c.599T>C XP_016873261.1:p.Met200Thr
XR_947828.2:n.895T>C
NM_001330347.2:c.599T>C NP_001317276.1:p.Met200Thr
NM_005590.4:c.599T>C NP_005581.2:p.Met200Thr
NM_005591.4:c.599T>C MANE Select NP_005582.1:p.Met200Thr