LDH info

Canonical Allele Identifier: CA239387
Gene: NIPBL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 159051
dbSNP Id: rs185678374

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36985474G>A , CM000667.2:g.36985474G>A GRCh38
NC_000005.9:g.36985576G>A , CM000667.1:g.36985576G>A GRCh37
NC_000005.8:g.37021333G>A NCBI36
NG_006987.1:g.113592G>A
NG_006987.2:g.113592G>A

Transcript Alleles

HGVS Amino-acid change
NM_015384.4:c.2294G>A VV NP_056199.2:p.Arg765Lys
NM_133433.3:c.2294G>A VV NP_597677.2:p.Arg765Lys
XM_005248280.2:c.2294G>A XP_005248337.1:p.Arg765Lys
XM_005248282.3:c.1550G>A XP_005248339.2:p.Arg517Lys
XM_006714467.2:c.2294G>A XP_006714530.1:p.Arg765Lys
XM_006714468.1:c.2294G>A XP_006714531.1:p.Arg765Lys
XM_011514014.1:c.2294G>A XP_011512316.1:p.Arg765Lys
XM_011514015.1:c.2294G>A XP_011512317.1:p.Arg765Lys
XM_005248280.3:c.2294G>A XP_005248337.1:p.Arg765Lys
XM_005248282.5:c.1634G>A XP_005248339.3:p.Arg545Lys
XM_006714468.2:c.2294G>A XP_006714531.1:p.Arg765Lys
XM_017009329.1:c.2294G>A XP_016864818.1:p.Arg765Lys
XM_017009330.2:c.677G>A XP_016864819.1:p.Arg226Lys
XM_017009331.1:c.1495+9072G>A XP_016864820.1:p.=
NM_133433.4:c.2294G>A VV MANE Preferred NP_597677.2:p.Arg765Lys
NM_015384.5:c.2294G>A VV NP_056199.2:p.Arg765Lys
ENST00000282516.12:c.2294G>A ENSP00000282516.8:p.Arg765Lys
ENST00000448238.2:c.2294G>A ENSP00000406266.2:p.Arg765Lys
ENST00000504430.5:n.1914G>A
ENST00000621733.1:c.1-79104G>A ENSP00000480694.1:p.=