Canonical Allele Identifier: CA10579383
Gene: MRE11 HGNC NCBI

Linked Data

ClinVar Variation Id: 230608
ClinVar RCV Id: RCV000214897
dbSNP Id: rs876658665

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94464112C>T , CM000673.2:g.94464112C>T GRCh38
NC_000011.9:g.94197278C>T , CM000673.1:g.94197278C>T GRCh37
NC_000011.8:g.93836926C>T NCBI36
NG_007261.1:g.34763G>A , LRG_85:g.34763G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000323929.8:c.1225+1G>A MANE Select ENSP00000325863.4:n.1225+1G>A
ENST00000323929.7:c.1225+1G>A ENSP00000325863.3:n.1225+1G>A
ENST00000323977.7:c.1225+1G>A ENSP00000326094.3:n.1225+1G>A
ENST00000393241.8:c.1225+1G>A ENSP00000376933.4:n.1225+1G>A
ENST00000407439.7:c.1234+1G>A ENSP00000385614.3:n.1234+1G>A
NM_005590.3:c.1225+1G>A NP_005581.2:n.1225+1G>A
NM_005591.3:c.1225+1G>A , LRG_85t1:c.1225+1G>A NP_005582.1:n.1225+1G>A
XM_005274008.2:c.757+1G>A XP_005274065.1:n.757+1G>A
XM_006718842.2:c.1225+1G>A XP_006718905.1:n.1225+1G>A
XM_011542837.1:c.1225+1G>A XP_011541139.1:n.1225+1G>A
XR_947828.1:n.1521+1G>A
NM_001330347.1:c.1225+1G>A NP_001317276.1:n.1225+1G>A
XM_005274008.3:c.757+1G>A XP_005274065.1:n.757+1G>A
XM_006718842.3:c.1225+1G>A XP_006718905.1:n.1225+1G>A
XM_011542837.2:c.1225+1G>A XP_011541139.1:n.1225+1G>A
XM_017017772.1:c.1225+1G>A XP_016873261.1:n.1225+1G>A
XR_947828.2:n.1521+1G>A
NM_001330347.2:c.1225+1G>A NP_001317276.1:n.1225+1G>A
NM_005590.4:c.1225+1G>A NP_005581.2:n.1225+1G>A
NM_005591.4:c.1225+1G>A MANE Select NP_005582.1:n.1225+1G>A