Canonical Allele Identifier: CA600850576
Community Standard Title: NM_005591.4(MRE11):c.*1174C>T
Gene: MRE11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94418951G>A , CM000673.2:g.94418951G>A GRCh38
NC_000011.9:g.94152117G>A , CM000673.1:g.94152117G>A GRCh37
NC_000011.8:g.93791765G>A NCBI36
NG_007261.1:g.79924C>T , LRG_85:g.79924C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005591.4:c.*1174C>T MANE Select NP_005582.1:n.*1174C>T
ENST00000323929.8:c.*1174C>T MANE Select ENSP00000325863.4:n.*1174C>T
NM_001330347.1:c.*1174C>T NP_001317276.1:n.*1174C>T
NM_001330347.2:c.*1174C>T NP_001317276.1:n.*1174C>T
NM_005590.3:c.*1174C>T NP_005581.2:n.*1174C>T
NM_005590.4:c.*1174C>T NP_005581.2:n.*1174C>T
NM_005591.3:c.*1174C>T , LRG_85t1:c.*1174C>T NP_005582.1:n.*1174C>T
ENST00000323929.7:c.*1174C>T ENSP00000325863.3:n.*1174C>T
XM_005274008.3:c.*1174C>T XP_005274065.1:n.*1174C>T
XM_006718842.3:c.*1174C>T XP_006718905.1:n.*1174C>T
XM_011542837.2:c.*1174C>T XP_011541139.1:n.*1174C>T
XM_017017772.1:c.*1174C>T XP_016873261.1:n.*1174C>T
XR_947828.1:n.3597C>T
XR_947828.2:n.3597C>T