Canonical Allele Identifier: CA382379358
Community Standard Title: NM_005591.4(MRE11):c.309T>G (p.Phe103Leu)
Gene: MRE11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94485929A>C , CM000673.2:g.94485929A>C GRCh38
NC_000011.9:g.94219095A>C , CM000673.1:g.94219095A>C GRCh37
NC_000011.8:g.93858743A>C NCBI36
NG_007261.1:g.12946T>G , LRG_85:g.12946T>G

Transcript Alleles

HGVS Amino-acid Change
NM_005591.4:c.309T>G MANE Select NP_005582.1:p.Phe103Leu
ENST00000323929.8:c.309T>G MANE Select ENSP00000325863.4:p.Phe103Leu
NM_001330347.1:c.309T>G NP_001317276.1:p.Phe103Leu
NM_001330347.2:c.309T>G NP_001317276.1:p.Phe103Leu
NM_005590.3:c.309T>G NP_005581.2:p.Phe103Leu
NM_005590.4:c.309T>G NP_005581.2:p.Phe103Leu
NM_005591.3:c.309T>G , LRG_85t1:c.309T>G NP_005582.1:p.Phe103Leu
ENST00000323929.7:c.309T>G ENSP00000325863.3:p.Phe103Leu
ENST00000323977.7:c.309T>G ENSP00000326094.3:p.Phe103Leu
ENST00000393241.8:c.309T>G ENSP00000376933.4:p.Phe103Leu
ENST00000407439.7:c.318T>G ENSP00000385614.3:p.Phe106Leu
ENST00000536144.1:n.544T>G
ENST00000536754.5:c.309T>G ENSP00000439511.1:p.Phe103Leu
ENST00000538923.1:c.309T>G ENSP00000442809.1:p.Phe103Leu
ENST00000540013.5:c.309T>G ENSP00000440986.1:p.Phe103Leu
ENST00000541157.5:n.473T>G
XM_005274008.2:c.-156T>G XP_005274065.1:n.-156T>G
XM_005274008.3:c.-156T>G XP_005274065.1:n.-156T>G
XM_006718842.2:c.309T>G XP_006718905.1:p.Phe103Leu
XM_006718842.3:c.309T>G XP_006718905.1:p.Phe103Leu
XM_011542837.1:c.309T>G XP_011541139.1:p.Phe103Leu
XM_011542837.2:c.309T>G XP_011541139.1:p.Phe103Leu
XM_017017772.1:c.309T>G XP_016873261.1:p.Phe103Leu
XR_947828.1:n.605T>G
XR_947828.2:n.605T>G