Canonical Allele Identifier: CA382366929

Gene: MRE11

Linked Data

• gnomAD v4: 11-94445891-C-A
• MyVariant Identifiers: chr11:g.94179057C>A (hg19) ; chr11:g.94445891C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94445891C>A , CM000673.2:g.94445891C>A	GRCh38
NC_000011.9:g.94179057C>A , CM000673.1:g.94179057C>A	GRCh37
NC_000011.8:g.93818705C>A	NCBI36
NG_007261.1:g.52984G>T , LRG_85:g.52984G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000323929.8:c.1786G>T MANE Select	ENSP00000325863.4:p.Asp596Tyr
ENST00000323929.7:c.1786G>T	ENSP00000325863.3:p.Asp596Tyr
ENST00000323977.7:c.1783+1328G>T	ENSP00000326094.3:n.1783+1328G>T
ENST00000393241.8:c.1784-1G>T	ENSP00000376933.4:n.1784-1G>T
ENST00000407439.7:c.1795G>T	ENSP00000385614.3:p.Asp599Tyr
ENST00000535120.1:n.83-1G>T
NM_005590.3:c.1783+1328G>T	NP_005581.2:n.1783+1328G>T
NM_005591.3:c.1786G>T , LRG_85t1:c.1786G>T	NP_005582.1:p.Asp596Tyr
XM_005274008.2:c.1318G>T	XP_005274065.1:p.Asp440Tyr
XM_006718842.2:c.1784-1G>T	XP_006718905.1:n.1784-1G>T
XM_011542837.1:c.1786G>T	XP_011541139.1:p.Asp596Tyr
XR_947828.1:n.2082G>T
NM_001330347.1:c.1784-1G>T	NP_001317276.1:n.1784-1G>T
XM_005274008.3:c.1318G>T	XP_005274065.1:p.Asp440Tyr
XM_006718842.3:c.1784-1G>T	XP_006718905.1:n.1784-1G>T
XM_011542837.2:c.1786G>T	XP_011541139.1:p.Asp596Tyr
XM_017017772.1:c.1786G>T	XP_016873261.1:p.Asp596Tyr
XR_947828.2:n.2082G>T
NM_001330347.2:c.1784-1G>T	NP_001317276.1:n.1784-1G>T
NM_005590.4:c.1783+1328G>T	NP_005581.2:n.1783+1328G>T
NM_005591.4:c.1786G>T MANE Select	NP_005582.1:p.Asp596Tyr