LDH info

Canonical Allele Identifier: CA120725348
Gene: SMN1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs77969175

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70951941G>T , CM000667.2:g.70951941G>T GRCh38
NC_000005.9:g.70247768G>T , CM000667.1:g.70247768G>T GRCh37
NC_000005.8:g.70283524G>T NCBI36
NG_008691.1:g.32001G>T , LRG_676:g.32001G>T

Transcript Alleles

HGVS Amino-acid change
NM_000344.3:c.835G>T , LRG_676t1:c.835G>T NP_000335.1:p.Gly279Cys
NM_001297715.1:c.835-498G>T VV NP_001284644.1:p.=
NM_022874.2:c.739G>T VV NP_075012.1:p.Gly247Cys
XM_011543597.1:c.634G>T XP_011541899.1:p.Gly212Cys
XM_011543598.1:c.538G>T XP_011541900.1:p.Gly180Cys
XM_011543598.3:c.538G>T XP_011541900.1:p.Gly180Cys
XM_017009786.1:c.739-498G>T XP_016865275.1:p.=
ENST00000351205.8:n.835G>T ENSP00000305857.5:p.Gly279Cys
ENST00000380707.8:c.835G>T ENSP00000370083.4:p.Gly279Cys
ENST00000503079.6:c.739G>T ENSP00000428128.1:p.Gly247Cys
ENST00000506163.5:c.835-498G>T ENSP00000424926.1:p.=
ENST00000506239.6:c.*59-498G>T ENSP00000422679.2:p.=
ENST00000510679.1:n.89G>T
ENST00000514951.5:c.634G>T ENSP00000423298.1:p.Gly212Cys