LDH info

Canonical Allele Identifier: CA16041645
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370607
ClinVar RCV Id: RCV000411525
dbSNP Id: rs1057516624

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23341008del , CM000675.2:g.23341008del GRCh38
NC_000013.10:g.23915147del , CM000675.1:g.23915147del GRCh37
NC_000013.9:g.22813147del NCBI36
NG_012342.1:g.97697del

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.2429del VV NP_001264984.1:p.Pro810GlnfsTer10
NM_014363.5:c.2870del VV NP_055178.3:p.Pro957GlnfsTer10
XM_005266338.1:c.2897del XP_005266395.1:p.Pro966GlnfsTer10
XM_011535038.1:c.2921del XP_011533340.1:p.Pro974GlnfsTer10
XM_011535039.1:c.2888del XP_011533341.1:p.Pro963GlnfsTer10
XM_005266338.2:c.2897del XP_005266395.1:p.Pro966GlnfsTer10
XM_011535039.2:c.2888del XP_011533341.1:p.Pro963GlnfsTer10
XM_017020539.1:c.2861del XP_016876028.1:p.Pro954GlnfsTer10
XM_024449337.1:c.2897del XP_024305105.1:p.Pro966GlnfsTer10
NM_014363.6:c.2870del VV MANE Preferred NP_055178.3:p.Pro957GlnfsTer10
NM_001278055.2:c.2429del VV NP_001264984.1:p.Pro810GlnfsTer10
ENST00000382292.7:c.2870del ENSP00000371729.3:p.Pro957GlnfsTer10
ENST00000382298.7:c.2870del ENSP00000371735.3:p.Pro957GlnfsTer10
ENST00000402364.1:c.620del ENSP00000385844.1:p.Pro207GlnfsTer10
ENST00000423156.1:n.1058-11522del ENSP00000390925.1:p.=
ENST00000455470.5:n.2129+439del