LDH info

Canonical Allele Identifier: CA254688
Gene: SMN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9175
ClinVar RCV Id: RCV000009752
dbSNP Id: rs104893930

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70938845G>A , CM000667.2:g.70938845G>A GRCh38
NC_000005.9:g.70234672G>A , CM000667.1:g.70234672G>A GRCh37
NC_000005.8:g.70270428G>A NCBI36
NG_008691.1:g.18905G>A , LRG_676:g.18905G>A

Transcript Alleles

HGVS Amino-acid change
NM_000344.3:c.88G>A , LRG_676t1:c.88G>A NP_000335.1:p.Asp30Asn
NM_001297715.1:c.88G>A VV NP_001284644.1:p.Asp30Asn
NM_022874.2:c.88G>A VV NP_075012.1:p.Asp30Asn
XM_011543596.1:c.88G>A XP_011541898.1:p.Asp30Asn
XM_011543597.1:c.88G>A XP_011541899.1:p.Asp30Asn
XM_011543598.1:c.88G>A XP_011541900.1:p.Asp30Asn
XM_011543598.3:c.88G>A XP_011541900.1:p.Asp30Asn
XM_017009786.1:c.88G>A XP_016865275.1:p.Asp30Asn
ENST00000351205.8:n.88G>A ENSP00000305857.5:p.Asp30Asn
ENST00000380707.8:c.88G>A ENSP00000370083.4:p.Asp30Asn
ENST00000503079.6:c.88G>A ENSP00000428128.1:p.Asp30Asn
ENST00000506163.5:c.88G>A ENSP00000424926.1:p.Asp30Asn
ENST00000506239.6:c.88G>A ENSP00000422679.2:p.Asp30Asn
ENST00000514951.5:c.88G>A ENSP00000423298.1:p.Asp30Asn
ENST00000625245.2:n.88G>A ENSP00000486539.1:p.Asp30Asn