LDH info

Canonical Allele Identifier: CA224045
Gene: NIPBL HGNC NCBI
C5orf42 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 96355
dbSNP Id: rs398124474

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37064854C>T , CM000667.2:g.37064854C>T GRCh38
NC_000005.9:g.37064956C>T , CM000667.1:g.37064956C>T GRCh37
NC_000005.8:g.37100713C>T NCBI36
NG_006987.1:g.192972C>T
NG_006987.2:g.192972C>T

Transcript Alleles

HGVS Amino-acid change
NM_015384.4:c.*831C>T (NIPBL) VV NP_056199.2:p.=
NM_133433.3:c.8377C>T (NIPBL) VV NP_597677.2:p.Arg2793Ter
XM_005248280.2:c.*321C>T (NIPBL) XP_005248337.1:p.=
XM_005248282.3:c.7633C>T (NIPBL) XP_005248339.2:p.Arg2545Ter
XM_006714467.2:c.8230C>T (NIPBL) XP_006714530.1:p.Arg2744Ter
XM_006714468.1:c.8179C>T (NIPBL) XP_006714531.1:p.Arg2727Ter
XM_011514014.1:c.7996C>T (NIPBL) XP_011512316.1:p.Arg2666Ter
XM_005248280.3:c.*321C>T (NIPBL) XP_005248337.1:p.=
XM_005248282.5:c.7717C>T (NIPBL) XP_005248339.3:p.Arg2573Ter
XM_006714468.2:c.8179C>T (NIPBL) XP_006714531.1:p.Arg2727Ter
XM_017009329.1:c.*321C>T (NIPBL) XP_016864818.1:p.=
XM_017009330.2:c.6760C>T (NIPBL) XP_016864819.1:p.Arg2254Ter
XM_017009331.1:c.6751C>T (NIPBL) XP_016864820.1:p.Arg2251Ter
XR_925644.2:n.11828G>A (C5orf42)
NM_133433.4:c.8377C>T (NIPBL) VV NP_597677.2:p.Arg2793Ter
NM_015384.5:c.*831C>T (NIPBL) VV NP_056199.2:p.=
ENST00000282516.12:c.8377C>T ENSP00000282516.8:p.Arg2793Ter
ENST00000514335.1:n.2300C>T
ENST00000621733.1:c.277C>T ENSP00000480694.1:p.Arg93Ter