LDH info

Canonical Allele Identifier: CA272021
Gene: NIPBL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 159058
ClinVar RCV Id: RCV000146549
dbSNP Id: rs587783906

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36985674C>T , CM000667.2:g.36985674C>T GRCh38
NC_000005.9:g.36985776C>T , CM000667.1:g.36985776C>T GRCh37
NC_000005.8:g.37021533C>T NCBI36
NG_006987.1:g.113792C>T
NG_006987.2:g.113792C>T

Transcript Alleles

HGVS Amino-acid change
NM_015384.4:c.2494C>T VV NP_056199.2:p.Arg832Ter
NM_133433.3:c.2494C>T VV NP_597677.2:p.Arg832Ter
XM_005248280.2:c.2494C>T XP_005248337.1:p.Arg832Ter
XM_005248282.3:c.1750C>T XP_005248339.2:p.Arg584Ter
XM_006714467.2:c.2494C>T XP_006714530.1:p.Arg832Ter
XM_006714468.1:c.2494C>T XP_006714531.1:p.Arg832Ter
XM_011514014.1:c.2494C>T XP_011512316.1:p.Arg832Ter
XM_011514015.1:c.2494C>T XP_011512317.1:p.Arg832Ter
XM_005248280.3:c.2494C>T XP_005248337.1:p.Arg832Ter
XM_005248282.5:c.1834C>T XP_005248339.3:p.Arg612Ter
XM_006714468.2:c.2494C>T XP_006714531.1:p.Arg832Ter
XM_017009329.1:c.2494C>T XP_016864818.1:p.Arg832Ter
XM_017009330.2:c.877C>T XP_016864819.1:p.Arg293Ter
XM_017009331.1:c.1495+9272C>T XP_016864820.1:p.=
NM_133433.4:c.2494C>T VV MANE Preferred NP_597677.2:p.Arg832Ter
NM_015384.5:c.2494C>T VV NP_056199.2:p.Arg832Ter
ENST00000282516.12:c.2494C>T ENSP00000282516.8:p.Arg832Ter
ENST00000448238.2:c.2494C>T ENSP00000406266.2:p.Arg832Ter
ENST00000504430.5:n.2114C>T
ENST00000621733.1:c.1-78904C>T ENSP00000480694.1:p.=