LDH info

Canonical Allele Identifier: CA16041596
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371248
ClinVar RCV Id: RCV000409320
dbSNP Id: rs1057517123

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330593dup , CM000675.2:g.23330593dup GRCh38
NC_000013.10:g.23904732dup , CM000675.1:g.23904732dup GRCh37
NC_000013.9:g.22802732dup NCBI36
NG_012342.1:g.108110dup

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.12842dup VV NP_001264984.1:p.Tyr4281Ter
NM_014363.5:c.13283dup VV NP_055178.3:p.Tyr4428Ter
XM_005266338.1:c.13310dup XP_005266395.1:p.Tyr4437Ter
XM_011535038.1:c.13334dup XP_011533340.1:p.Tyr4445Ter
XM_011535039.1:c.13301dup XP_011533341.1:p.Tyr4434Ter
XM_005266338.2:c.13310dup XP_005266395.1:p.Tyr4437Ter
XM_011535039.2:c.13301dup XP_011533341.1:p.Tyr4434Ter
XM_017020539.1:c.13274dup XP_016876028.1:p.Tyr4425Ter
XM_024449337.1:c.13310dup XP_024305105.1:p.Tyr4437Ter
NM_014363.6:c.13283dup VV MANE Preferred NP_055178.3:p.Tyr4428Ter
ENST00000382292.7:c.13283dup ENSP00000371729.3:p.Tyr4428Ter
ENST00000382298.7:c.13283dup ENSP00000371735.3:p.Tyr4428Ter
ENST00000402364.1:c.11033dup ENSP00000385844.1:p.Tyr3678Ter
ENST00000423156.1:n.1058-1109dup ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-1109dup