LDH info

Canonical Allele Identifier: CA272006
Gene: NIPBL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 159050
ClinVar RCV Id: RCV000146539
dbSNP Id: rs587783899

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36985440C>T , CM000667.2:g.36985440C>T GRCh38
NC_000005.9:g.36985542C>T , CM000667.1:g.36985542C>T GRCh37
NC_000005.8:g.37021299C>T NCBI36
NG_006987.1:g.113558C>T
NG_006987.2:g.113558C>T

Transcript Alleles

HGVS Amino-acid change
NM_015384.4:c.2260C>T VV NP_056199.2:p.Arg754Ter
NM_133433.3:c.2260C>T VV NP_597677.2:p.Arg754Ter
XM_005248280.2:c.2260C>T XP_005248337.1:p.Arg754Ter
XM_005248282.3:c.1516C>T XP_005248339.2:p.Arg506Ter
XM_006714467.2:c.2260C>T XP_006714530.1:p.Arg754Ter
XM_006714468.1:c.2260C>T XP_006714531.1:p.Arg754Ter
XM_011514014.1:c.2260C>T XP_011512316.1:p.Arg754Ter
XM_011514015.1:c.2260C>T XP_011512317.1:p.Arg754Ter
XM_005248280.3:c.2260C>T XP_005248337.1:p.Arg754Ter
XM_005248282.5:c.1600C>T XP_005248339.3:p.Arg534Ter
XM_006714468.2:c.2260C>T XP_006714531.1:p.Arg754Ter
XM_017009329.1:c.2260C>T XP_016864818.1:p.Arg754Ter
XM_017009330.2:c.643C>T XP_016864819.1:p.Arg215Ter
XM_017009331.1:c.1495+9038C>T XP_016864820.1:p.=
NM_133433.4:c.2260C>T VV MANE Preferred NP_597677.2:p.Arg754Ter
ENST00000282516.12:c.2260C>T ENSP00000282516.8:p.Arg754Ter
ENST00000448238.2:c.2260C>T ENSP00000406266.2:p.Arg754Ter
ENST00000504430.5:n.1880C>T
ENST00000621733.1:c.1-79138C>T ENSP00000480694.1:p.=