Canonical Allele Identifier: CA331836

Gene: MRE11

Linked Data

• ClinVar Variation Id: 127975
• ClinVar RCV Id: RCV000115910 ; RCV000589610 ; RCV001080166 ; RCV001287216 ; RCV002225331 ; RCV002477282
• dbSNP Id: rs142082313
• ExAC: 11:94180380 C / G
• gnomAD v2: 11-94180380-C-G
• gnomAD v3: 11-94447214-C-G
• gnomAD v4: 11-94447214-C-G
• MyVariant Identifiers: chr11:g.94180380C>G (hg19) ; chr11:g.94447214C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94447214C>G , CM000673.2:g.94447214C>G	GRCh38
NC_000011.9:g.94180380C>G , CM000673.1:g.94180380C>G	GRCh37
NC_000011.8:g.93820028C>G	NCBI36
NG_007261.1:g.51661G>C , LRG_85:g.51661G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000323929.8:c.1783+5G>C MANE Select	ENSP00000325863.4:n.1783+5G>C
ENST00000323929.7:c.1783+5G>C	ENSP00000325863.3:n.1783+5G>C
ENST00000323977.7:c.1783+5G>C	ENSP00000326094.3:n.1783+5G>C
ENST00000393241.8:c.1783+5G>C	ENSP00000376933.4:n.1783+5G>C
ENST00000407439.7:c.1792+5G>C	ENSP00000385614.3:n.1792+5G>C
ENST00000535120.1:n.82+5G>C
NM_005590.3:c.1783+5G>C	NP_005581.2:n.1783+5G>C
NM_005591.3:c.1783+5G>C , LRG_85t1:c.1783+5G>C	NP_005582.1:n.1783+5G>C
XM_005274008.2:c.1315+5G>C	XP_005274065.1:n.1315+5G>C
XM_006718842.2:c.1783+5G>C	XP_006718905.1:n.1783+5G>C
XM_011542837.1:c.1783+5G>C	XP_011541139.1:n.1783+5G>C
XR_947828.1:n.2079+5G>C
NM_001330347.1:c.1783+5G>C	NP_001317276.1:n.1783+5G>C
XM_005274008.3:c.1315+5G>C	XP_005274065.1:n.1315+5G>C
XM_006718842.3:c.1783+5G>C	XP_006718905.1:n.1783+5G>C
XM_011542837.2:c.1783+5G>C	XP_011541139.1:n.1783+5G>C
XM_017017772.1:c.1783+5G>C	XP_016873261.1:n.1783+5G>C
XR_947828.2:n.2079+5G>C
NM_001330347.2:c.1783+5G>C	NP_001317276.1:n.1783+5G>C
NM_005590.4:c.1783+5G>C	NP_005581.2:n.1783+5G>C
NM_005591.4:c.1783+5G>C MANE Select	NP_005582.1:n.1783+5G>C