Canonical Allele Identifier: CA10579414

Gene: MRE11

Linked Data

• ClinVar Variation Id: 231234
• ClinVar RCV Id: RCV000218270
• dbSNP Id: rs876659042
• gnomAD v2: 11-94212905-C-T
• gnomAD v3: 11-94479739-C-T
• gnomAD v4: 11-94479739-C-T
• MyVariant Identifiers: chr11:g.94212905C>T (hg19) ; chr11:g.94479739C>T (hg38)
• PubMed: PMID:21227757

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94479739C>T , CM000673.2:g.94479739C>T	GRCh38
NC_000011.9:g.94212905C>T , CM000673.1:g.94212905C>T	GRCh37
NC_000011.8:g.93852553C>T	NCBI36
NG_007261.1:g.19136G>A , LRG_85:g.19136G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000323929.8:c.337G>A MANE Select	ENSP00000325863.4:p.Asp113Asn
ENST00000323929.7:c.337G>A	ENSP00000325863.3:p.Asp113Asn
ENST00000323977.7:c.337G>A	ENSP00000326094.3:p.Asp113Asn
ENST00000393241.8:c.337G>A	ENSP00000376933.4:p.Asp113Asn
ENST00000407439.7:c.346G>A	ENSP00000385614.3:p.Asp116Asn
ENST00000536754.5:c.337G>A	ENSP00000439511.1:p.Asp113Asn
ENST00000540013.5:c.337G>A	ENSP00000440986.1:p.Asp113Asn
ENST00000541157.5:n.479-863G>A
NM_005590.3:c.337G>A	NP_005581.2:p.Asp113Asn
NM_005591.3:c.337G>A , LRG_85t1:c.337G>A	NP_005582.1:p.Asp113Asn
XM_005274008.2:c.-132G>A	XP_005274065.1:n.-132G>A
XM_006718842.2:c.337G>A	XP_006718905.1:p.Asp113Asn
XM_011542837.1:c.337G>A	XP_011541139.1:p.Asp113Asn
XR_947828.1:n.633G>A
NM_001330347.1:c.337G>A	NP_001317276.1:p.Asp113Asn
XM_005274008.3:c.-132G>A	XP_005274065.1:n.-132G>A
XM_006718842.3:c.337G>A	XP_006718905.1:p.Asp113Asn
XM_011542837.2:c.337G>A	XP_011541139.1:p.Asp113Asn
XM_017017772.1:c.337G>A	XP_016873261.1:p.Asp113Asn
XR_947828.2:n.633G>A
NM_001330347.2:c.337G>A	NP_001317276.1:p.Asp113Asn
NM_005590.4:c.337G>A	NP_005581.2:p.Asp113Asn
NM_005591.4:c.337G>A MANE Select	NP_005582.1:p.Asp113Asn