LDH info

Canonical Allele Identifier: CA16041656
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371399
ClinVar RCV Id: RCV000410403
dbSNP Id: rs1057517242

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23355531del , CM000675.2:g.23355531del GRCh38
NC_000013.10:g.23929670del , CM000675.1:g.23929670del GRCh37
NC_000013.9:g.22827670del NCBI36
NG_012342.1:g.83176del

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.644del VV NP_001264984.1:p.Lys215ArgfsTer10
NM_014363.5:c.1085del VV NP_055178.3:p.Lys362ArgfsTer10
XM_005266338.1:c.1085del XP_005266395.1:p.Lys362ArgfsTer10
XM_011535038.1:c.1109del XP_011533340.1:p.Lys370ArgfsTer10
XM_011535039.1:c.1076del XP_011533341.1:p.Lys359ArgfsTer10
XM_005266338.2:c.1085del XP_005266395.1:p.Lys362ArgfsTer10
XM_011535039.2:c.1076del XP_011533341.1:p.Lys359ArgfsTer10
XM_017020539.1:c.1076del XP_016876028.1:p.Lys359ArgfsTer10
XM_024449337.1:c.1085del XP_024305105.1:p.Lys362ArgfsTer10
NM_014363.6:c.1085del VV MANE Preferred NP_055178.3:p.Lys362ArgfsTer10
NM_001278055.2:c.644del VV NP_001264984.1:p.Lys215ArgfsTer10
ENST00000382292.7:c.1085del ENSP00000371729.3:p.Lys362ArgfsTer10
ENST00000382298.7:c.1085del ENSP00000371735.3:p.Lys362ArgfsTer10
ENST00000402364.1:c.-1166del ENSP00000385844.1:p.=
ENST00000455470.5:n.783del