LDH info

Canonical Allele Identifier: CA331852
Gene: MRE11A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 127989
dbSNP Id: rs372000848

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94470575G>A , CM000673.2:g.94470575G>A GRCh38
NC_000011.9:g.94203741G>A , CM000673.1:g.94203741G>A GRCh37
NC_000011.8:g.93843389G>A NCBI36
NG_007261.1:g.28300C>T , LRG_85:g.28300C>T

Transcript Alleles

HGVS Amino-acid change
NM_005590.3:c.913C>T VV NP_005581.2:p.Arg305Trp
NM_005591.3:c.913C>T , LRG_85t1:c.913C>T NP_005582.1:p.Arg305Trp
XM_005274008.2:c.445C>T XP_005274065.1:p.Arg149Trp
XM_006718842.2:c.913C>T XP_006718905.1:p.Arg305Trp
XM_011542837.1:c.913C>T XP_011541139.1:p.Arg305Trp
XR_947828.1:n.1209C>T
NM_001330347.1:c.913C>T VV NP_001317276.1:p.Arg305Trp
XM_005274008.3:c.445C>T XP_005274065.1:p.Arg149Trp
XM_006718842.3:c.913C>T XP_006718905.1:p.Arg305Trp
XM_011542837.2:c.913C>T XP_011541139.1:p.Arg305Trp
XM_017017772.1:c.913C>T XP_016873261.1:p.Arg305Trp
XR_947828.2:n.1209C>T
NM_001330347.2:c.913C>T VV NP_001317276.1:p.Arg305Trp
NM_005590.4:c.913C>T VV NP_005581.2:p.Arg305Trp
NM_005591.4:c.913C>T VV MANE Preferred NP_005582.1:p.Arg305Trp
ENST00000323929.7:c.913C>T ENSP00000325863.3:p.Arg305Trp
ENST00000323977.7:c.913C>T ENSP00000326094.3:p.Arg305Trp
ENST00000393241.8:c.913C>T ENSP00000376933.4:p.Arg305Trp
ENST00000407439.7:c.922C>T ENSP00000385614.3:p.Arg308Trp