LDH info

Canonical Allele Identifier: CA272230
Gene: NIPBL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 159195
ClinVar RCV Id: RCV000146689
dbSNP Id: rs147054690

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37045577G>T , CM000667.2:g.37045577G>T GRCh38
NC_000005.9:g.37045679G>T , CM000667.1:g.37045679G>T GRCh37
NC_000005.8:g.37081436G>T NCBI36
NG_006987.1:g.173695G>T
NG_006987.2:g.173695G>T

Transcript Alleles

HGVS Amino-acid change
NM_015384.4:c.6478G>T VV NP_056199.2:p.Asp2160Tyr
NM_133433.3:c.6478G>T VV NP_597677.2:p.Asp2160Tyr
XM_005248280.2:c.6478G>T XP_005248337.1:p.Asp2160Tyr
XM_005248282.3:c.5734G>T XP_005248339.2:p.Asp1912Tyr
XM_006714467.2:c.6478G>T XP_006714530.1:p.Asp2160Tyr
XM_006714468.1:c.6280G>T XP_006714531.1:p.Asp2094Tyr
XM_011514014.1:c.6097G>T XP_011512316.1:p.Asp2033Tyr
XM_011514015.1:c.6478G>T XP_011512317.1:p.Asp2160Tyr
XM_005248280.3:c.6478G>T XP_005248337.1:p.Asp2160Tyr
XM_005248282.5:c.5818G>T XP_005248339.3:p.Asp1940Tyr
XM_006714468.2:c.6280G>T XP_006714531.1:p.Asp2094Tyr
XM_017009329.1:c.6478G>T XP_016864818.1:p.Asp2160Tyr
XM_017009330.2:c.4861G>T XP_016864819.1:p.Asp1621Tyr
XM_017009331.1:c.4852G>T XP_016864820.1:p.Asp1618Tyr
NM_133433.4:c.6478G>T VV MANE Preferred NP_597677.2:p.Asp2160Tyr
ENST00000282516.12:c.6478G>T ENSP00000282516.8:p.Asp2160Tyr
ENST00000448238.2:c.6478G>T ENSP00000406266.2:p.Asp2160Tyr
ENST00000621733.1:c.1-19001G>T ENSP00000480694.1:p.=