Canonical Allele Identifier: CA1992457378
Community Standard Title: NM_005591.4(MRE11):c.140C= (p.Ala47=)
Gene: MRE11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94490846G= , CM000673.2:g.94490846G= GRCh38
NC_000011.9:g.94224012G= , CM000673.1:g.94224012G= GRCh37
NC_000011.8:g.93863660G= NCBI36
NG_007261.1:g.8029C= , LRG_85:g.8029C=

Transcript Alleles

HGVS Amino-acid Change
NM_005591.4:c.140C= MANE Select NP_005582.1:p.Ala47=
ENST00000323929.8:c.140C= MANE Select ENSP00000325863.4:p.Ala47=
NM_001330347.1:c.140C= NP_001317276.1:p.Ala47=
NM_001330347.2:c.140C= NP_001317276.1:p.Ala47=
NM_005590.3:c.140C= NP_005581.2:p.Ala47=
NM_005590.4:c.140C= NP_005581.2:p.Ala47=
NM_005591.3:c.140C= , LRG_85t1:c.140C= NP_005582.1:p.Ala47=
ENST00000323929.7:c.140C= ENSP00000325863.3:p.Ala47=
ENST00000323977.7:c.140C= ENSP00000326094.3:p.Ala47=
ENST00000393241.8:c.140C= ENSP00000376933.4:p.Ala47=
ENST00000407439.7:c.149C= ENSP00000385614.3:p.Ala50=
ENST00000536144.1:n.375C=
ENST00000536754.5:c.140C= ENSP00000439511.1:p.Ala47=
ENST00000538923.1:c.140C= ENSP00000442809.1:p.Ala47=
ENST00000540013.5:c.140C= ENSP00000440986.1:p.Ala47=
ENST00000541157.5:n.304C=
XM_005274008.3:c.-325C= XP_005274065.1:n.-325C=
XM_006718842.2:c.140C= XP_006718905.1:p.Ala47=
XM_006718842.3:c.140C= XP_006718905.1:p.Ala47=
XM_011542837.1:c.140C= XP_011541139.1:p.Ala47=
XM_011542837.2:c.140C= XP_011541139.1:p.Ala47=
XM_017017772.1:c.140C= XP_016873261.1:p.Ala47=
XR_947828.1:n.436C=
XR_947828.2:n.436C=