LDH info

Canonical Allele Identifier: CA308479183
Gene: NUMBL HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs141799618

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40682173C>G , CM000681.2:g.40682173C>G GRCh38
NC_000019.9:g.41188078C>G , CM000681.1:g.41188078C>G GRCh37
NC_000019.8:g.45879918C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_001289979.1:c.276+555G>C VV NP_001276908.1:p.=
NM_001289980.1:c.276+555G>C VV NP_001276909.1:p.=
NM_004756.4:c.399+555G>C VV NP_004747.1:p.=
XM_011527489.1:c.276+555G>C XP_011525791.1:p.=
XM_011527490.1:c.276+555G>C XP_011525792.1:p.=
XR_935869.1:n.357+555G>C
NM_001289980.2:c.276+555G>C VV NP_001276909.1:p.=
NM_004756.5:c.399+555G>C VV MANE Preferred NP_004747.1:p.=
NM_001289979.2:c.276+555G>C VV NP_001276908.1:p.=
ENST00000252891.8:c.399+555G>C ENSP00000252891.3:p.=
ENST00000540131.5:c.276+555G>C ENSP00000442759.1:p.=
ENST00000593367.1:n.128+555G>C
ENST00000595741.5:c.276+555G>C ENSP00000470794.1:p.=
ENST00000598773.5:c.276+555G>C ENSP00000469736.1:p.=
ENST00000598779.5:c.276+555G>C ENSP00000472400.1:p.=
ENST00000599786.1:n.689+555G>C
ENST00000600636.5:c.276+555G>C ENSP00000471376.1:p.=
ENST00000600967.5:n.106+555G>C