LDH info

Canonical Allele Identifier: CA252112
Gene: NIPBL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2139
ClinVar RCV Id: RCV000002221
dbSNP Id: rs121918264

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36953698T>A , CM000667.2:g.36953698T>A GRCh38
NC_000005.9:g.36953800T>A , CM000667.1:g.36953800T>A GRCh37
NC_000005.8:g.36989557T>A NCBI36
NG_006987.1:g.81816T>A
NG_006987.2:g.81816T>A

Transcript Alleles

HGVS Amino-acid change
NM_015384.4:c.2T>A VV
NM_133433.3:c.2T>A VV
XM_005248280.2:c.2T>A
XM_006714467.2:c.2T>A
XM_006714468.1:c.2T>A
XM_011514014.1:c.2T>A
XM_011514015.1:c.2T>A
XM_005248280.3:c.2T>A
XM_006714468.2:c.2T>A
XM_017009329.1:c.2T>A
XM_017009331.1:c.2T>A
NM_133433.4:c.2T>A VV MANE Preferred
NM_015384.5:c.2T>A VV
ENST00000282516.12:c.2T>A
ENST00000448238.2:c.2T>A
ENST00000621733.1:c.-1+76676T>A ENSP00000480694.1:p.=