Canonical Allele Identifier: CA337730

Gene: MRE11

Linked Data

• ClinVar Variation Id: 215849
• ClinVar RCV Id: RCV000198213 ; RCV000859064 ; RCV003477660
• dbSNP Id: rs544844010
• ExAC: 11:94204832 T / G
• gnomAD v2: 11-94204832-T-G
• gnomAD v3: 11-94471666-T-G
• gnomAD v4: 11-94471666-T-G
• MyVariant Identifiers: chr11:g.94204832T>G (hg19) ; chr11:g.94471666T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94471666T>G , CM000673.2:g.94471666T>G	GRCh38
NC_000011.9:g.94204832T>G , CM000673.1:g.94204832T>G	GRCh37
NC_000011.8:g.93844480T>G	NCBI36
NG_007261.1:g.27209A>C , LRG_85:g.27209A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323929.8:c.753A>C MANE Select	ENSP00000325863.4:p.Ile251=
ENST00000323929.7:c.753A>C	ENSP00000325863.3:p.Ile251=
ENST00000323977.7:c.753A>C	ENSP00000326094.3:p.Ile251=
ENST00000393241.8:c.753A>C	ENSP00000376933.4:p.Ile251=
ENST00000407439.7:c.762A>C	ENSP00000385614.3:p.Ile254=
NM_005590.3:c.753A>C	NP_005581.2:p.Ile251=
NM_005591.3:c.753A>C , LRG_85t1:c.753A>C	NP_005582.1:p.Ile251=
XM_005274008.2:c.285A>C	XP_005274065.1:p.Ile95=
XM_006718842.2:c.753A>C	XP_006718905.1:p.Ile251=
XM_011542837.1:c.753A>C	XP_011541139.1:p.Ile251=
XR_947828.1:n.1049A>C
NM_001330347.1:c.753A>C	NP_001317276.1:p.Ile251=
XM_005274008.3:c.285A>C	XP_005274065.1:p.Ile95=
XM_006718842.3:c.753A>C	XP_006718905.1:p.Ile251=
XM_011542837.2:c.753A>C	XP_011541139.1:p.Ile251=
XM_017017772.1:c.753A>C	XP_016873261.1:p.Ile251=
XR_947828.2:n.1049A>C
NM_001330347.2:c.753A>C	NP_001317276.1:p.Ile251=
NM_005590.4:c.753A>C	NP_005581.2:p.Ile251=
NM_005591.4:c.753A>C MANE Select	NP_005582.1:p.Ile251=