LDH info

Canonical Allele Identifier: CA252115
Gene: NIPBL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2140
ClinVar RCV Id: RCV000002222
dbSNP Id: rs121918265

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37057211A>G , CM000667.2:g.37057211A>G GRCh38
NC_000005.9:g.37057313A>G , CM000667.1:g.37057313A>G GRCh37
NC_000005.8:g.37093070A>G NCBI36
NG_006987.1:g.185329A>G
NG_006987.2:g.185329A>G

Transcript Alleles

HGVS Amino-acid change
NM_015384.4:c.7289A>G VV NP_056199.2:p.Tyr2430Cys
NM_133433.3:c.7289A>G VV NP_597677.2:p.Tyr2430Cys
XM_005248280.2:c.7289A>G XP_005248337.1:p.Tyr2430Cys
XM_005248282.3:c.6545A>G XP_005248339.2:p.Tyr2182Cys
XM_006714467.2:c.7264-1680A>G XP_006714530.1:p.=
XM_006714468.1:c.7091A>G XP_006714531.1:p.Tyr2364Cys
XM_011514014.1:c.6908A>G XP_011512316.1:p.Tyr2303Cys
XM_011514015.1:c.7264-3633A>G XP_011512317.1:p.=
XM_005248280.3:c.7289A>G XP_005248337.1:p.Tyr2430Cys
XM_005248282.5:c.6629A>G XP_005248339.3:p.Tyr2210Cys
XM_006714468.2:c.7091A>G XP_006714531.1:p.Tyr2364Cys
XM_017009329.1:c.7264-1680A>G XP_016864818.1:p.=
XM_017009330.2:c.5672A>G XP_016864819.1:p.Tyr1891Cys
XM_017009331.1:c.5663A>G XP_016864820.1:p.Tyr1888Cys
NM_133433.4:c.7289A>G VV MANE Preferred NP_597677.2:p.Tyr2430Cys
NM_015384.5:c.7289A>G VV NP_056199.2:p.Tyr2430Cys
ENST00000282516.12:c.7289A>G ENSP00000282516.8:p.Tyr2430Cys
ENST00000448238.2:c.7289A>G ENSP00000406266.2:p.Tyr2430Cys
ENST00000514335.1:n.1171A>G
ENST00000621733.1:c.1-7367A>G ENSP00000480694.1:p.=