LDH info

Canonical Allele Identifier: CA272032
Gene: NIPBL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 159065
ClinVar RCV Id: RCV000146558
dbSNP Id: rs587783911

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36986012T>A , CM000667.2:g.36986012T>A GRCh38
NC_000005.9:g.36986114T>A , CM000667.1:g.36986114T>A GRCh37
NC_000005.8:g.37021871T>A NCBI36
NG_006987.1:g.114130T>A
NG_006987.2:g.114130T>A

Transcript Alleles

HGVS Amino-acid change
NM_015384.4:c.2832T>A VV NP_056199.2:p.Tyr944Ter
NM_133433.3:c.2832T>A VV NP_597677.2:p.Tyr944Ter
XM_005248280.2:c.2832T>A XP_005248337.1:p.Tyr944Ter
XM_005248282.3:c.2088T>A XP_005248339.2:p.Tyr696Ter
XM_006714467.2:c.2832T>A XP_006714530.1:p.Tyr944Ter
XM_006714468.1:c.2832T>A XP_006714531.1:p.Tyr944Ter
XM_011514014.1:c.2832T>A XP_011512316.1:p.Tyr944Ter
XM_011514015.1:c.2832T>A XP_011512317.1:p.Tyr944Ter
XM_005248280.3:c.2832T>A XP_005248337.1:p.Tyr944Ter
XM_005248282.5:c.2172T>A XP_005248339.3:p.Tyr724Ter
XM_006714468.2:c.2832T>A XP_006714531.1:p.Tyr944Ter
XM_017009329.1:c.2832T>A XP_016864818.1:p.Tyr944Ter
XM_017009330.2:c.1215T>A XP_016864819.1:p.Tyr405Ter
XM_017009331.1:c.1496-9610T>A XP_016864820.1:p.=
NM_133433.4:c.2832T>A VV MANE Preferred NP_597677.2:p.Tyr944Ter
NM_015384.5:c.2832T>A VV NP_056199.2:p.Tyr944Ter
ENST00000282516.12:c.2832T>A ENSP00000282516.8:p.Tyr944Ter
ENST00000448238.2:c.2832T>A ENSP00000406266.2:p.Tyr944Ter
ENST00000504430.5:n.2452T>A
ENST00000621733.1:c.1-78566T>A ENSP00000480694.1:p.=