LDH info

Canonical Allele Identifier: CA14147452
Gene: SMAD3 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs17228212

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67166301T>C , CM000677.2:g.67166301T>C GRCh38
NC_000015.9:g.67458639T>C , CM000677.1:g.67458639T>C GRCh37
NC_000015.8:g.65245693T>C NCBI36
NG_011990.1:g.105445T>C

Transcript Alleles

HGVS Amino-acid change
NM_001145102.1:c.218-478T>C VV NP_001138574.1:p.=
NM_001145103.1:c.401-478T>C VV NP_001138575.1:p.=
NM_001145104.1:c.-54+108T>C VV NP_001138576.1:p.=
NM_005902.3:c.533-478T>C VV NP_005893.1:p.=
XM_011521559.1:c.401-478T>C XP_011519861.1:p.=
XM_011521560.1:c.386-478T>C XP_011519862.1:p.=
XM_011521559.3:c.401-478T>C XP_011519861.1:p.=
NM_005902.4:c.533-478T>C VV MANE Preferred NP_005893.1:p.=
ENST00000327367.8:c.533-478T>C ENSP00000332973.4:p.=
ENST00000439724.7:c.401-478T>C ENSP00000401133.3:p.=
ENST00000537194.6:c.-54+108T>C ENSP00000445348.2:p.=
ENST00000540846.6:c.218-478T>C ENSP00000437757.2:p.=
ENST00000558894.5:c.218-478T>C ENSP00000458060.1:p.=
ENST00000559460.5:c.218-478T>C ENSP00000453082.1:p.=
ENST00000559937.1:n.383-478T>C
ENST00000560175.5:c.218-478T>C ENSP00000455095.1:p.=