LDH info

Canonical Allele Identifier: CA340432
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5512
dbSNP Id: rs281865117

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23335032del , CM000675.2:g.23335032del GRCh38
NC_000013.10:g.23909171del , CM000675.1:g.23909171del GRCh37
NC_000013.9:g.22807171del NCBI36
NG_012342.1:g.103671del

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.8403del VV NP_001264984.1:p.Ile2802PhefsTer4
NM_014363.5:c.8844del VV NP_055178.3:p.Ile2949PhefsTer4
XM_005266338.1:c.8871del XP_005266395.1:p.Ile2958PhefsTer4
XM_011535038.1:c.8895del XP_011533340.1:p.Ile2966PhefsTer4
XM_011535039.1:c.8862del XP_011533341.1:p.Ile2955PhefsTer4
XM_005266338.2:c.8871del XP_005266395.1:p.Ile2958PhefsTer4
XM_011535039.2:c.8862del XP_011533341.1:p.Ile2955PhefsTer4
XM_017020539.1:c.8835del XP_016876028.1:p.Ile2946PhefsTer4
XM_024449337.1:c.8871del XP_024305105.1:p.Ile2958PhefsTer4
NM_014363.6:c.8844del VV MANE Preferred NP_055178.3:p.Ile2949PhefsTer4
NM_001278055.2:c.8403del VV NP_001264984.1:p.Ile2802PhefsTer4
ENST00000382292.7:c.8844del ENSP00000371729.3:p.Ile2949PhefsTer4
ENST00000382298.7:c.8844del ENSP00000371735.3:p.Ile2949PhefsTer4
ENST00000402364.1:c.6594del ENSP00000385844.1:p.Ile2199PhefsTer4
ENST00000423156.1:n.1058-5548del ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-5548del