LDH info

Canonical Allele Identifier: CA252120
Gene: NIPBL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2146
ClinVar RCV Id: RCV000002228
dbSNP Id: rs121918267

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37020615C>T , CM000667.2:g.37020615C>T GRCh38
NC_000005.9:g.37020717C>T , CM000667.1:g.37020717C>T GRCh37
NC_000005.8:g.37056474C>T NCBI36
NG_006987.1:g.148733C>T
NG_006987.2:g.148733C>T

Transcript Alleles

HGVS Amino-acid change
NM_015384.4:c.5167C>T VV NP_056199.2:p.Arg1723Ter
NM_133433.3:c.5167C>T VV NP_597677.2:p.Arg1723Ter
XM_005248280.2:c.5167C>T XP_005248337.1:p.Arg1723Ter
XM_005248282.3:c.4423C>T XP_005248339.2:p.Arg1475Ter
XM_006714467.2:c.5167C>T XP_006714530.1:p.Arg1723Ter
XM_006714468.1:c.4969C>T XP_006714531.1:p.Arg1657Ter
XM_011514014.1:c.4786C>T XP_011512316.1:p.Arg1596Ter
XM_011514015.1:c.5167C>T XP_011512317.1:p.Arg1723Ter
XM_005248280.3:c.5167C>T XP_005248337.1:p.Arg1723Ter
XM_005248282.5:c.4507C>T XP_005248339.3:p.Arg1503Ter
XM_006714468.2:c.4969C>T XP_006714531.1:p.Arg1657Ter
XM_017009329.1:c.5167C>T XP_016864818.1:p.Arg1723Ter
XM_017009330.2:c.3550C>T XP_016864819.1:p.Arg1184Ter
XM_017009331.1:c.3541C>T XP_016864820.1:p.Arg1181Ter
NM_133433.4:c.5167C>T VV MANE Preferred NP_597677.2:p.Arg1723Ter
ENST00000282516.12:c.5167C>T ENSP00000282516.8:p.Arg1723Ter
ENST00000448238.2:c.5167C>T ENSP00000406266.2:p.Arg1723Ter
ENST00000621733.1:c.1-43963C>T ENSP00000480694.1:p.=