Canonical Allele Identifier: CA226523792

Gene: MRE11

Linked Data

• ClinVar Variation Id: 466435
• ClinVar RCV Id: RCV002231809
• dbSNP Id: rs978608099
• gnomAD v3: 11-94445899-A-G
• gnomAD v4: 11-94445899-A-G
• MyVariant Identifiers: chr11:g.94179065A>G (hg19) ; chr11:g.94445899A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94445899A>G , CM000673.2:g.94445899A>G	GRCh38
NC_000011.9:g.94179065A>G , CM000673.1:g.94179065A>G	GRCh37
NC_000011.8:g.93818713A>G	NCBI36
NG_007261.1:g.52976T>C , LRG_85:g.52976T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323929.8:c.1784-6T>C MANE Select	ENSP00000325863.4:n.1784-6T>C
ENST00000323929.7:c.1784-6T>C	ENSP00000325863.3:n.1784-6T>C
ENST00000323977.7:c.1783+1320T>C	ENSP00000326094.3:n.1783+1320T>C
ENST00000393241.8:c.1784-9T>C	ENSP00000376933.4:n.1784-9T>C
ENST00000407439.7:c.1793-6T>C	ENSP00000385614.3:n.1793-6T>C
ENST00000535120.1:n.83-9T>C
NM_005590.3:c.1783+1320T>C	NP_005581.2:n.1783+1320T>C
NM_005591.3:c.1784-6T>C , LRG_85t1:c.1784-6T>C	NP_005582.1:n.1784-6T>C
XM_005274008.2:c.1316-6T>C	XP_005274065.1:n.1316-6T>C
XM_006718842.2:c.1784-9T>C	XP_006718905.1:n.1784-9T>C
XM_011542837.1:c.1784-6T>C	XP_011541139.1:n.1784-6T>C
XR_947828.1:n.2080-6T>C
NM_001330347.1:c.1784-9T>C	NP_001317276.1:n.1784-9T>C
XM_005274008.3:c.1316-6T>C	XP_005274065.1:n.1316-6T>C
XM_006718842.3:c.1784-9T>C	XP_006718905.1:n.1784-9T>C
XM_011542837.2:c.1784-6T>C	XP_011541139.1:n.1784-6T>C
XM_017017772.1:c.1784-6T>C	XP_016873261.1:n.1784-6T>C
XR_947828.2:n.2080-6T>C
NM_001330347.2:c.1784-9T>C	NP_001317276.1:n.1784-9T>C
NM_005590.4:c.1783+1320T>C	NP_005581.2:n.1783+1320T>C
NM_005591.4:c.1784-6T>C MANE Select	NP_005582.1:n.1784-6T>C