LDH info

Canonical Allele Identifier: CA359486301
Gene: NIPBL HGNC NCBI

Identifiers and link-outs to other resources

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36976192C>T , CM000667.2:g.36976192C>T GRCh38
NC_000005.9:g.36976294C>T , CM000667.1:g.36976294C>T GRCh37
NC_000005.8:g.37012051C>T NCBI36
NG_006987.1:g.104310C>T
NG_006987.2:g.104310C>T

Transcript Alleles

HGVS Amino-acid change
NM_015384.4:c.1285C>T VV NP_056199.2:p.Leu429Phe
NM_133433.3:c.1285C>T VV NP_597677.2:p.Leu429Phe
XM_005248280.2:c.1285C>T XP_005248337.1:p.Leu429Phe
XM_005248282.3:c.541C>T XP_005248339.2:p.Leu181Phe
XM_006714467.2:c.1285C>T XP_006714530.1:p.Leu429Phe
XM_006714468.1:c.1285C>T XP_006714531.1:p.Leu429Phe
XM_011514014.1:c.1285C>T XP_011512316.1:p.Leu429Phe
XM_011514015.1:c.1285C>T XP_011512317.1:p.Leu429Phe
XM_005248280.3:c.1285C>T XP_005248337.1:p.Leu429Phe
XM_005248282.5:c.625C>T XP_005248339.3:p.Leu209Phe
XM_006714468.2:c.1285C>T XP_006714531.1:p.Leu429Phe
XM_017009329.1:c.1285C>T XP_016864818.1:p.Leu429Phe
XM_017009331.1:c.1285C>T XP_016864820.1:p.Leu429Phe
NM_133433.4:c.1285C>T VV MANE Preferred NP_597677.2:p.Leu429Phe
NM_015384.5:c.1285C>T VV NP_056199.2:p.Leu429Phe
ENST00000282516.12:c.1285C>T ENSP00000282516.8:p.Leu429Phe
ENST00000448238.2:c.1285C>T ENSP00000406266.2:p.Leu429Phe
ENST00000504430.5:n.905C>T
ENST00000621733.1:c.1-88386C>T ENSP00000480694.1:p.=