LDH info

Canonical Allele Identifier: CA261142
Gene: SMN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 39513
ClinVar RCV Id: RCV000032709
dbSNP Id: rs397514518

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70942472T>C , CM000667.2:g.70942472T>C GRCh38
NC_000005.9:g.70238299T>C , CM000667.1:g.70238299T>C GRCh37
NC_000005.8:g.70274055T>C NCBI36
NG_008691.1:g.22532T>C , LRG_676:g.22532T>C

Transcript Alleles

HGVS Amino-acid change
NM_000344.3:c.388T>C , LRG_676t1:c.388T>C NP_000335.1:p.Tyr130His
NM_001297715.1:c.388T>C VV NP_001284644.1:p.Tyr130His
NM_022874.2:c.388T>C VV NP_075012.1:p.Tyr130His
XM_011543596.1:c.388T>C XP_011541898.1:p.Tyr130His
XM_011543597.1:c.274-246T>C XP_011541899.1:p.=
XM_011543598.1:c.274-246T>C XP_011541900.1:p.=
XM_011543598.3:c.274-246T>C XP_011541900.1:p.=
XM_017009786.1:c.388T>C XP_016865275.1:p.Tyr130His
ENST00000351205.8:n.388T>C ENSP00000305857.5:p.Tyr130His
ENST00000380707.8:c.388T>C ENSP00000370083.4:p.Tyr130His
ENST00000503079.6:c.388T>C ENSP00000428128.1:p.Tyr130His
ENST00000506163.5:c.388T>C ENSP00000424926.1:p.Tyr130His
ENST00000506239.6:c.388T>C ENSP00000422679.2:p.Tyr130His
ENST00000514951.5:c.274-246T>C ENSP00000423298.1:p.=
ENST00000518504.5:n.1T>C
ENST00000625245.2:n.388T>C ENSP00000486539.1:p.Tyr130His