LDH info

Canonical Allele Identifier: CA272050
Gene: NIPBL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 159078
ClinVar RCV Id: RCV000146571
dbSNP Id: rs587783919

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37000390A>T , CM000667.2:g.37000390A>T GRCh38
NC_000005.9:g.37000492A>T , CM000667.1:g.37000492A>T GRCh37
NC_000005.8:g.37036249A>T NCBI36
NG_006987.1:g.128508A>T
NG_006987.2:g.128508A>T

Transcript Alleles

HGVS Amino-acid change
NM_015384.4:c.3322A>T VV NP_056199.2:p.Lys1108Ter
NM_133433.3:c.3322A>T VV NP_597677.2:p.Lys1108Ter
XM_005248280.2:c.3322A>T XP_005248337.1:p.Lys1108Ter
XM_005248282.3:c.2578A>T XP_005248339.2:p.Lys860Ter
XM_006714467.2:c.3322A>T XP_006714530.1:p.Lys1108Ter
XM_006714468.1:c.3305-427A>T XP_006714531.1:p.=
XM_011514014.1:c.3122-427A>T XP_011512316.1:p.=
XM_011514015.1:c.3322A>T XP_011512317.1:p.Lys1108Ter
XM_005248280.3:c.3322A>T XP_005248337.1:p.Lys1108Ter
XM_005248282.5:c.2662A>T XP_005248339.3:p.Lys888Ter
XM_006714468.2:c.3305-427A>T XP_006714531.1:p.=
XM_017009329.1:c.3322A>T XP_016864818.1:p.Lys1108Ter
XM_017009330.2:c.1705A>T XP_016864819.1:p.Lys569Ter
XM_017009331.1:c.1696A>T XP_016864820.1:p.Lys566Ter
NM_133433.4:c.3322A>T VV MANE Preferred NP_597677.2:p.Lys1108Ter
NM_015384.5:c.3322A>T VV NP_056199.2:p.Lys1108Ter
ENST00000282516.12:c.3322A>T ENSP00000282516.8:p.Lys1108Ter
ENST00000448238.2:c.3322A>T ENSP00000406266.2:p.Lys1108Ter
ENST00000503274.1:n.673A>T
ENST00000621733.1:c.1-64188A>T ENSP00000480694.1:p.=