LDH info

Canonical Allele Identifier: CA254698
Gene: SMN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9180
ClinVar RCV Id: RCV000009758
dbSNP Id: rs104893934

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70942490C>G , CM000667.2:g.70942490C>G GRCh38
NC_000005.9:g.70238317C>G , CM000667.1:g.70238317C>G GRCh37
NC_000005.8:g.70274073C>G NCBI36
NG_008691.1:g.22550C>G , LRG_676:g.22550C>G

Transcript Alleles

HGVS Amino-acid change
NM_000344.3:c.406C>G , LRG_676t1:c.406C>G NP_000335.1:p.Gln136Glu
NM_001297715.1:c.406C>G VV NP_001284644.1:p.Gln136Glu
NM_022874.2:c.406C>G VV NP_075012.1:p.Gln136Glu
XM_011543596.1:c.406C>G XP_011541898.1:p.Gln136Glu
XM_011543597.1:c.274-228C>G XP_011541899.1:p.=
XM_011543598.1:c.274-228C>G XP_011541900.1:p.=
XM_011543598.3:c.274-228C>G XP_011541900.1:p.=
XM_017009786.1:c.406C>G XP_016865275.1:p.Gln136Glu
ENST00000351205.8:n.406C>G ENSP00000305857.5:p.Gln136Glu
ENST00000380707.8:c.406C>G ENSP00000370083.4:p.Gln136Glu
ENST00000503079.6:c.406C>G ENSP00000428128.1:p.Gln136Glu
ENST00000506163.5:c.406C>G ENSP00000424926.1:p.Gln136Glu
ENST00000506239.6:c.406C>G ENSP00000422679.2:p.Gln136Glu
ENST00000514951.5:c.274-228C>G ENSP00000423298.1:p.=
ENST00000518504.5:n.19C>G
ENST00000625245.2:n.406C>G ENSP00000486539.1:p.Gln136Glu