LDH info

Canonical Allele Identifier: CA16042046
Gene: ARSA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370171
ClinVar RCV Id: RCV000410209
dbSNP Id: rs1057516288

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50627568_50627569del , CM000684.2:g.50627568_50627569del GRCh38
NC_000022.10:g.51065996_51065997del , CM000684.1:g.51065996_51065997del GRCh37
NC_000022.9:g.49412862_49412863del NCBI36
NG_009260.2:g.5609_5610del

Transcript Alleles

HGVS Amino-acid change
NM_000487.5:c.209_210del VV NP_000478.3:p.Cys71HisfsTer4
NM_001085425.2:c.209_210del VV NP_001078894.2:p.Cys71HisfsTer4
NM_001085426.2:c.209_210del VV NP_001078895.2:p.Cys71HisfsTer4
NM_001085427.2:c.209_210del VV NP_001078896.2:p.Cys71HisfsTer4
NM_001085428.2:c.-34-165_-34-164del VV NP_001078897.1:p.=
XM_011530690.1:c.-34-165_-34-164del XP_011528992.1:p.=
XM_011530691.1:c.209_210del XP_011528993.1:p.Cys71HisfsTer4
NM_001362782.1:c.-34-165_-34-164del VV NP_001349711.1:p.=
XM_011530691.3:c.209_210del XP_011528993.1:p.Cys71HisfsTer4
XM_017028800.1:c.209_210del XP_016884289.1:p.Cys71HisfsTer4
XM_024452241.1:c.209_210del XP_024308009.1:p.Cys71HisfsTer4
NM_000487.6:c.209_210del VV MANE Preferred NP_000478.3:p.Cys71HisfsTer4
NM_001085425.3:c.209_210del VV NP_001078894.2:p.Cys71HisfsTer4
NM_001085426.3:c.209_210del VV NP_001078895.2:p.Cys71HisfsTer4
NM_001085427.3:c.209_210del VV NP_001078896.2:p.Cys71HisfsTer4
NM_001085428.3:c.-34-165_-34-164del VV NP_001078897.1:p.=
NM_001362782.2:c.-34-165_-34-164del VV NP_001349711.1:p.=
ENST00000216124.9:c.209_210del ENSP00000216124.5:p.Cys71HisfsTer4
ENST00000356098.9:c.209_210del ENSP00000348406.5:p.Cys71HisfsTer4
ENST00000395619.3:c.209_210del ENSP00000378981.3:p.Cys71HisfsTer4
ENST00000395621.7:c.209_210del ENSP00000378983.3:p.Cys71HisfsTer4
ENST00000453344.6:c.-34-165_-34-164del ENSP00000412542.2:p.=
ENST00000551731.1:n.600_601del