Canonical Allele Identifier: CA382366962
Gene: MRE11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94445893G>T , CM000673.2:g.94445893G>T GRCh38
NC_000011.9:g.94179059G>T , CM000673.1:g.94179059G>T GRCh37
NC_000011.8:g.93818707G>T NCBI36
NG_007261.1:g.52982C>A , LRG_85:g.52982C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323929.8:c.1784C>A MANE Select ENSP00000325863.4:p.Ala595Glu
ENST00000323929.7:c.1784C>A ENSP00000325863.3:p.Ala595Glu
ENST00000323977.7:c.1783+1326C>A ENSP00000326094.3:n.1783+1326C>A
ENST00000393241.8:c.1784-3C>A ENSP00000376933.4:n.1784-3C>A
ENST00000407439.7:c.1793C>A ENSP00000385614.3:p.Ala598Glu
ENST00000535120.1:n.83-3C>A
NM_005590.3:c.1783+1326C>A NP_005581.2:n.1783+1326C>A
NM_005591.3:c.1784C>A , LRG_85t1:c.1784C>A NP_005582.1:p.Ala595Glu
XM_005274008.2:c.1316C>A XP_005274065.1:p.Ala439Glu
XM_006718842.2:c.1784-3C>A XP_006718905.1:n.1784-3C>A
XM_011542837.1:c.1784C>A XP_011541139.1:p.Ala595Glu
XR_947828.1:n.2080C>A
NM_001330347.1:c.1784-3C>A NP_001317276.1:n.1784-3C>A
XM_005274008.3:c.1316C>A XP_005274065.1:p.Ala439Glu
XM_006718842.3:c.1784-3C>A XP_006718905.1:n.1784-3C>A
XM_011542837.2:c.1784C>A XP_011541139.1:p.Ala595Glu
XM_017017772.1:c.1784C>A XP_016873261.1:p.Ala595Glu
XR_947828.2:n.2080C>A
NM_001330347.2:c.1784-3C>A NP_001317276.1:n.1784-3C>A
NM_005590.4:c.1783+1326C>A NP_005581.2:n.1783+1326C>A
NM_005591.4:c.1784C>A MANE Select NP_005582.1:p.Ala595Glu