LDH info

Canonical Allele Identifier: CA278032
Gene: ARSA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3072
ClinVar RCV Id: RCV000003218
dbSNP Id: rs74315469

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50626748G>T , CM000684.2:g.50626748G>T GRCh38
NC_000022.10:g.51065176G>T , CM000684.1:g.51065176G>T GRCh37
NC_000022.9:g.49412042G>T NCBI36
NG_009260.2:g.6432C>A

Transcript Alleles

HGVS Amino-acid change
NM_000487.5:c.697C>A VV NP_000478.3:p.Pro233Thr
NM_001085425.2:c.697C>A VV NP_001078894.2:p.Pro233Thr
NM_001085426.2:c.697C>A VV NP_001078895.2:p.Pro233Thr
NM_001085427.2:c.697C>A VV NP_001078896.2:p.Pro233Thr
NM_001085428.2:c.439C>A VV NP_001078897.1:p.Pro147Thr
XM_011530690.1:c.439C>A XP_011528992.1:p.Pro147Thr
XM_011530691.1:c.697C>A XP_011528993.1:p.Pro233Thr
NM_001362782.1:c.439C>A VV NP_001349711.1:p.Pro147Thr
XM_011530691.3:c.697C>A XP_011528993.1:p.Pro233Thr
XM_017028800.1:c.697C>A XP_016884289.1:p.Pro233Thr
XM_024452241.1:c.697C>A XP_024308009.1:p.Pro233Thr
NM_000487.6:c.697C>A VV MANE Preferred NP_000478.3:p.Pro233Thr
NM_001085425.3:c.697C>A VV NP_001078894.2:p.Pro233Thr
NM_001085426.3:c.697C>A VV NP_001078895.2:p.Pro233Thr
NM_001085427.3:c.697C>A VV NP_001078896.2:p.Pro233Thr
NM_001085428.3:c.439C>A VV NP_001078897.1:p.Pro147Thr
NM_001362782.2:c.439C>A VV NP_001349711.1:p.Pro147Thr
ENST00000216124.9:c.697C>A ENSP00000216124.5:p.Pro233Thr
ENST00000356098.9:c.697C>A ENSP00000348406.5:p.Pro233Thr
ENST00000395619.3:c.697C>A ENSP00000378981.3:p.Pro233Thr
ENST00000395621.7:c.697C>A ENSP00000378983.3:p.Pro233Thr
ENST00000453344.6:c.439C>A ENSP00000412542.2:p.Pro147Thr
ENST00000551731.1:n.1274C>A