LDH info

Canonical Allele Identifier: CA16041651
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370507
ClinVar RCV Id: RCV000410889
dbSNP Id: rs1057516543

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23354931del , CM000675.2:g.23354931del GRCh38
NC_000013.10:g.23929070del , CM000675.1:g.23929070del GRCh37
NC_000013.9:g.22827070del NCBI36
NG_012342.1:g.83772del

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.1240del VV NP_001264984.1:p.Val414Ter
NM_014363.5:c.1681del VV NP_055178.3:p.Val561Ter
XM_005266338.1:c.1681del XP_005266395.1:p.Val561Ter
XM_011535038.1:c.1705del XP_011533340.1:p.Val569Ter
XM_011535039.1:c.1672del XP_011533341.1:p.Val558Ter
XM_005266338.2:c.1681del XP_005266395.1:p.Val561Ter
XM_011535039.2:c.1672del XP_011533341.1:p.Val558Ter
XM_017020539.1:c.1672del XP_016876028.1:p.Val558Ter
XM_024449337.1:c.1681del XP_024305105.1:p.Val561Ter
NM_014363.6:c.1681del VV MANE Preferred NP_055178.3:p.Val561Ter
NM_001278055.2:c.1240del VV NP_001264984.1:p.Val414Ter
ENST00000382292.7:c.1681del ENSP00000371729.3:p.Val561Ter
ENST00000382298.7:c.1681del ENSP00000371735.3:p.Val561Ter
ENST00000402364.1:c.-570del ENSP00000385844.1:p.=
ENST00000423156.1:n.553del ENSP00000390925.1:p.Val185Ter
ENST00000455470.5:n.1379del