LDH info

Canonical Allele Identifier: CA254692
Gene: SMN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9177
dbSNP Id: rs104893935

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70942416C>G , CM000667.2:g.70942416C>G GRCh38
NC_000005.9:g.70238243C>G , CM000667.1:g.70238243C>G GRCh37
NC_000005.8:g.70273999C>G NCBI36
NG_008691.1:g.22476C>G , LRG_676:g.22476C>G

Transcript Alleles

HGVS Amino-acid change
NM_000344.3:c.332C>G , LRG_676t1:c.332C>G NP_000335.1:p.Ala111Gly
NM_001297715.1:c.332C>G VV NP_001284644.1:p.Ala111Gly
NM_022874.2:c.332C>G VV NP_075012.1:p.Ala111Gly
XM_011543596.1:c.332C>G XP_011541898.1:p.Ala111Gly
XM_011543597.1:c.274-302C>G XP_011541899.1:p.=
XM_011543598.1:c.274-302C>G XP_011541900.1:p.=
XM_011543598.3:c.274-302C>G XP_011541900.1:p.=
XM_017009786.1:c.332C>G XP_016865275.1:p.Ala111Gly
ENST00000351205.8:n.332C>G ENSP00000305857.5:p.Ala111Gly
ENST00000380707.8:c.332C>G ENSP00000370083.4:p.Ala111Gly
ENST00000503079.6:c.332C>G ENSP00000428128.1:p.Ala111Gly
ENST00000506163.5:c.332C>G ENSP00000424926.1:p.Ala111Gly
ENST00000506239.6:c.332C>G ENSP00000422679.2:p.Ala111Gly
ENST00000514951.5:c.274-302C>G ENSP00000423298.1:p.=
ENST00000625245.2:n.332C>G ENSP00000486539.1:p.Ala111Gly