Canonical Allele Identifier: CA382378565

Gene: MRE11

Linked Data

• gnomAD v3: 11-94479736-C-A
• gnomAD v4: 11-94479736-C-A
• MyVariant Identifiers: chr11:g.94212902C>A (hg19) ; chr11:g.94479736C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94479736C>A , CM000673.2:g.94479736C>A	GRCh38
NC_000011.9:g.94212902C>A , CM000673.1:g.94212902C>A	GRCh37
NC_000011.8:g.93852550C>A	NCBI36
NG_007261.1:g.19139G>T , LRG_85:g.19139G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000323929.8:c.340G>T MANE Select	ENSP00000325863.4:p.Gly114Cys
ENST00000323929.7:c.340G>T	ENSP00000325863.3:p.Gly114Cys
ENST00000323977.7:c.340G>T	ENSP00000326094.3:p.Gly114Cys
ENST00000393241.8:c.340G>T	ENSP00000376933.4:p.Gly114Cys
ENST00000407439.7:c.349G>T	ENSP00000385614.3:p.Gly117Cys
ENST00000536754.5:c.340G>T	ENSP00000439511.1:p.Gly114Cys
ENST00000540013.5:c.340G>T	ENSP00000440986.1:p.Gly114Cys
ENST00000541157.5:n.479-860G>T
NM_005590.3:c.340G>T	NP_005581.2:p.Gly114Cys
NM_005591.3:c.340G>T , LRG_85t1:c.340G>T	NP_005582.1:p.Gly114Cys
XM_005274008.2:c.-129G>T	XP_005274065.1:n.-129G>T
XM_006718842.2:c.340G>T	XP_006718905.1:p.Gly114Cys
XM_011542837.1:c.340G>T	XP_011541139.1:p.Gly114Cys
XR_947828.1:n.636G>T
NM_001330347.1:c.340G>T	NP_001317276.1:p.Gly114Cys
XM_005274008.3:c.-129G>T	XP_005274065.1:n.-129G>T
XM_006718842.3:c.340G>T	XP_006718905.1:p.Gly114Cys
XM_011542837.2:c.340G>T	XP_011541139.1:p.Gly114Cys
XM_017017772.1:c.340G>T	XP_016873261.1:p.Gly114Cys
XR_947828.2:n.636G>T
NM_001330347.2:c.340G>T	NP_001317276.1:p.Gly114Cys
NM_005590.4:c.340G>T	NP_005581.2:p.Gly114Cys
NM_005591.4:c.340G>T MANE Select	NP_005582.1:p.Gly114Cys