LDH info

Canonical Allele Identifier: CA1075107975
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36995592T>G , CM000667.2:g.36995592T>G GRCh38
NC_000005.9:g.36995694T>G , CM000667.1:g.36995694T>G GRCh37
NC_000005.8:g.37031451T>G NCBI36
NG_006987.1:g.123710T>G
NG_006987.2:g.123710T>G

Transcript Alleles

HGVS Amino-acid change
NM_015384.4:c.3122-30T>G VV NP_056199.2:p.=
NM_133433.3:c.3122-30T>G VV NP_597677.2:p.=
XM_005248280.2:c.3122-30T>G XP_005248337.1:p.=
XM_005248282.3:c.2378-30T>G XP_005248339.2:p.=
XM_006714467.2:c.3122-30T>G XP_006714530.1:p.=
XM_006714468.1:c.3122-30T>G XP_006714531.1:p.=
XM_011514014.1:c.3122-5225T>G XP_011512316.1:p.=
XM_011514015.1:c.3122-30T>G XP_011512317.1:p.=
XM_005248280.3:c.3122-30T>G XP_005248337.1:p.=
XM_005248282.5:c.2462-30T>G XP_005248339.3:p.=
XM_006714468.2:c.3122-30T>G XP_006714531.1:p.=
XM_017009329.1:c.3122-30T>G XP_016864818.1:p.=
XM_017009330.2:c.1505-30T>G XP_016864819.1:p.=
XM_017009331.1:c.1496-30T>G XP_016864820.1:p.=
NM_133433.4:c.3122-30T>G VV MANE Preferred NP_597677.2:p.=
NM_015384.5:c.3122-30T>G VV NP_056199.2:p.=
ENST00000282516.12:c.3122-30T>G ENSP00000282516.8:p.=
ENST00000448238.2:c.3122-30T>G ENSP00000406266.2:p.=
ENST00000503274.1:n.443T>G
ENST00000504430.5:n.2742-30T>G
ENST00000621733.1:c.1-68986T>G ENSP00000480694.1:p.=