Canonical Allele Identifier: CA200836

Gene: MRE11

Linked Data

• ClinVar Variation Id: 193884
• ClinVar RCV Id: RCV000174111 ; RCV000412379 ; RCV000586234 ; RCV002225492 ; RCV002228782
• dbSNP Id: rs641936
• ExAC: 11:94197260 A / G
• gnomAD v2: 11-94197260-A-G
• gnomAD v3: 11-94464094-A-G
• gnomAD v4: 11-94464094-A-G
• MyVariant Identifiers: chr11:g.94197260A>G (hg19) ; chr11:g.94464094A>G (hg38)
• PubMed: PMID:19383352

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94464094A>G , CM000673.2:g.94464094A>G	GRCh38
NC_000011.9:g.94197260A>G , CM000673.1:g.94197260A>G	GRCh37
NC_000011.8:g.93836908A>G	NCBI36
NG_007261.1:g.34781T>C , LRG_85:g.34781T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000323929.8:c.1225+19T>C MANE Select	ENSP00000325863.4:n.1225+19T>C
ENST00000323929.7:c.1225+19T>C	ENSP00000325863.3:n.1225+19T>C
ENST00000323977.7:c.1225+19T>C	ENSP00000326094.3:n.1225+19T>C
ENST00000393241.8:c.1225+19T>C	ENSP00000376933.4:n.1225+19T>C
ENST00000407439.7:c.1234+19T>C	ENSP00000385614.3:n.1234+19T>C
NM_005590.3:c.1225+19T>C	NP_005581.2:n.1225+19T>C
NM_005591.3:c.1225+19T>C , LRG_85t1:c.1225+19T>C	NP_005582.1:n.1225+19T>C
XM_005274008.2:c.757+19T>C	XP_005274065.1:n.757+19T>C
XM_006718842.2:c.1225+19T>C	XP_006718905.1:n.1225+19T>C
XM_011542837.1:c.1225+19T>C	XP_011541139.1:n.1225+19T>C
XR_947828.1:n.1521+19T>C
NM_001330347.1:c.1225+19T>C	NP_001317276.1:n.1225+19T>C
XM_005274008.3:c.757+19T>C	XP_005274065.1:n.757+19T>C
XM_006718842.3:c.1225+19T>C	XP_006718905.1:n.1225+19T>C
XM_011542837.2:c.1225+19T>C	XP_011541139.1:n.1225+19T>C
XM_017017772.1:c.1225+19T>C	XP_016873261.1:n.1225+19T>C
XR_947828.2:n.1521+19T>C
NM_001330347.2:c.1225+19T>C	NP_001317276.1:n.1225+19T>C
NM_005590.4:c.1225+19T>C	NP_005581.2:n.1225+19T>C
NM_005591.4:c.1225+19T>C MANE Select	NP_005582.1:n.1225+19T>C