LDH info

Canonical Allele Identifier: CA117258
Gene: SGSH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5108
dbSNP Id: rs104894636

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80217061G>A , CM000679.2:g.80217061G>A GRCh38
NC_000017.10:g.78190860G>A , CM000679.1:g.78190860G>A GRCh37
NC_000017.9:g.75805455G>A NCBI36
NG_008229.1:g.8340C>T

Transcript Alleles

HGVS Amino-acid change
NM_000199.3:c.220C>T VV NP_000190.1:p.Arg74Cys
XM_005257582.2:c.220C>T XP_005257639.1:p.Arg74Cys
XM_005257583.3:c.220C>T XP_005257640.1:p.Arg74Cys
XM_011525126.1:c.220C>T XP_011523428.1:p.Arg74Cys
XM_011525127.1:c.220C>T XP_011523429.1:p.Arg74Cys
XR_934532.1:n.240C>T
NM_000199.4:c.220C>T VV NP_000190.1:p.Arg74Cys
NM_001352921.1:c.220C>T VV NP_001339850.1:p.Arg74Cys
NM_001352922.1:c.220C>T VV NP_001339851.1:p.Arg74Cys
NR_148201.1:n.307C>T
XM_005257583.4:c.220C>T XP_005257640.1:p.Arg74Cys
XM_017024952.1:c.220C>T XP_016880441.1:p.Arg74Cys
XR_001752585.1:n.240C>T
XR_001752586.1:n.240C>T
XR_001752587.1:n.240C>T
XR_001752588.1:n.240C>T
XR_001752589.1:n.240C>T
XR_001752590.1:n.240C>T
XR_001752591.1:n.240C>T
XR_001752592.1:n.240C>T
XR_002958057.1:n.240C>T
XR_934532.2:n.240C>T
NM_000199.5:c.220C>T VV MANE Preferred NP_000190.1:p.Arg74Cys
NM_001352921.2:c.220C>T VV NP_001339850.1:p.Arg74Cys
NM_001352922.2:c.220C>T VV NP_001339851.1:p.Arg74Cys
NR_148201.2:n.240C>T
ENST00000326317.10:c.220C>T ENSP00000314606.6:p.Arg74Cys
ENST00000570427.1:c.220C>T ENSP00000459765.1:p.Arg74Cys
ENST00000570923.1:c.255C>T ENSP00000458200.1:p.Ala85=
ENST00000571051.5:n.240C>T
ENST00000571075.1:n.240C>T
ENST00000571675.5:n.240C>T
ENST00000572208.5:n.238C>T
ENST00000573150.5:c.220C>T ENSP00000459280.1:p.Arg74Cys
ENST00000574505.5:n.165C>T
ENST00000575188.5:n.240C>T
ENST00000575282.5:n.229C>T
ENST00000576707.5:c.-42C>T ENSP00000461128.1:p.=
ENST00000576941.5:c.220C>T ENSP00000461160.1:p.Arg74Cys