LDH info

Canonical Allele Identifier: CA346813374
Gene: FBXO11 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 559601
ClinVar RCV Id: RCV000677378

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47839447T>A , CM000664.2:g.47839447T>A GRCh38
NC_000002.11:g.48066586T>A , CM000664.1:g.48066586T>A GRCh37
NC_000002.10:g.47920090T>A NCBI36
NG_008397.1:g.71229A>T

Transcript Alleles

HGVS Amino-acid change
NM_001190274.1:c.414A>T VV NP_001177203.1:p.Arg138Ser
NM_025133.4:c.162A>T VV NP_079409.3:p.Arg54Ser
XM_005264572.3:c.414A>T XP_005264629.1:p.Arg138Ser
XM_005264573.3:c.414A>T XP_005264630.1:p.Arg138Ser
XM_005264572.5:c.414A>T XP_005264629.1:p.Arg138Ser
XM_005264573.5:c.414A>T XP_005264630.1:p.Arg138Ser
XM_017005015.1:c.414A>T XP_016860504.1:p.Arg138Ser
XM_017005016.2:c.162A>T XP_016860505.1:p.Arg54Ser
XM_017005017.1:c.162A>T XP_016860506.1:p.Arg54Ser
NM_001190274.2:c.414A>T VV MANE Preferred NP_001177203.1:p.Arg138Ser
NM_001374325.1:c.162A>T VV NP_001361254.1:p.Arg54Ser
ENST00000316377.8:c.182A>T ENSP00000323822.5:p.Glu61Val
ENST00000402508.5:c.162A>T ENSP00000385398.1:p.Arg54Ser
ENST00000403359.7:c.414A>T ENSP00000384823.3:p.Arg138Ser
ENST00000424163.2:c.162A>T ENSP00000392272.1:p.Arg54Ser
ENST00000480038.1:n.377A>T
ENST00000492225.5:n.262A>T