LDH info

Canonical Allele Identifier: CA271974
Gene: NIPBL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 159036
ClinVar RCV Id: RCV000146521
dbSNP Id: rs587783887

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36976384A>G , CM000667.2:g.36976384A>G GRCh38
NC_000005.9:g.36976486A>G , CM000667.1:g.36976486A>G GRCh37
NC_000005.8:g.37012243A>G NCBI36
NG_006987.1:g.104502A>G
NG_006987.2:g.104502A>G

Transcript Alleles

HGVS Amino-acid change
NM_015384.4:c.1477A>G VV NP_056199.2:p.Lys493Glu
NM_133433.3:c.1477A>G VV NP_597677.2:p.Lys493Glu
XM_005248280.2:c.1477A>G XP_005248337.1:p.Lys493Glu
XM_005248282.3:c.733A>G XP_005248339.2:p.Lys245Glu
XM_006714467.2:c.1477A>G XP_006714530.1:p.Lys493Glu
XM_006714468.1:c.1477A>G XP_006714531.1:p.Lys493Glu
XM_011514014.1:c.1477A>G XP_011512316.1:p.Lys493Glu
XM_011514015.1:c.1477A>G XP_011512317.1:p.Lys493Glu
XM_005248280.3:c.1477A>G XP_005248337.1:p.Lys493Glu
XM_005248282.5:c.817A>G XP_005248339.3:p.Lys273Glu
XM_006714468.2:c.1477A>G XP_006714531.1:p.Lys493Glu
XM_017009329.1:c.1477A>G XP_016864818.1:p.Lys493Glu
XM_017009331.1:c.1477A>G XP_016864820.1:p.Lys493Glu
NM_133433.4:c.1477A>G VV MANE Preferred NP_597677.2:p.Lys493Glu
NM_015384.5:c.1477A>G VV NP_056199.2:p.Lys493Glu
ENST00000282516.12:c.1477A>G ENSP00000282516.8:p.Lys493Glu
ENST00000448238.2:c.1477A>G ENSP00000406266.2:p.Lys493Glu
ENST00000504430.5:n.1097A>G
ENST00000621733.1:c.1-88194A>G ENSP00000480694.1:p.=