LDH info

Canonical Allele Identifier: CA16041636
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370168
ClinVar RCV Id: RCV000409566
dbSNP Id: rs1057516285

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23339116del , CM000675.2:g.23339116del GRCh38
NC_000013.10:g.23913255del , CM000675.1:g.23913255del GRCh37
NC_000013.9:g.22811255del NCBI36
NG_012342.1:g.99587del

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.4319del VV NP_001264984.1:p.His1440LeufsTer?
NM_014363.5:c.4760del VV NP_055178.3:p.His1587LeufsTer?
XM_005266338.1:c.4787del XP_005266395.1:p.His1596LeufsTer?
XM_011535038.1:c.4811del XP_011533340.1:p.His1604LeufsTer?
XM_011535039.1:c.4778del XP_011533341.1:p.His1593LeufsTer?
XM_005266338.2:c.4787del XP_005266395.1:p.His1596LeufsTer?
XM_011535039.2:c.4778del XP_011533341.1:p.His1593LeufsTer?
XM_017020539.1:c.4751del XP_016876028.1:p.His1584LeufsTer?
XM_024449337.1:c.4787del XP_024305105.1:p.His1596LeufsTer?
NM_014363.6:c.4760del VV MANE Preferred NP_055178.3:p.His1587LeufsTer?
NM_001278055.2:c.4319del VV NP_001264984.1:p.His1440LeufsTer?
ENST00000382292.7:c.4760del ENSP00000371729.3:p.His1587LeufsTer?
ENST00000382298.7:c.4760del ENSP00000371735.3:p.His1587LeufsTer?
ENST00000402364.1:c.2510del ENSP00000385844.1:p.His837LeufsTer?
ENST00000423156.1:n.1058-9632del ENSP00000390925.1:p.=
ENST00000455470.5:n.2129+2329del