LDH info

Canonical Allele Identifier: CA116005
Gene: ARSA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3090
dbSNP Id: rs28940894

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50626271T>G , CM000684.2:g.50626271T>G GRCh38
NC_000022.10:g.51064699T>G , CM000684.1:g.51064699T>G GRCh37
NC_000022.9:g.49411565T>G NCBI36
NG_009260.2:g.6909A>C

Transcript Alleles

HGVS Amino-acid change
NM_000487.5:c.862A>C VV NP_000478.3:p.Thr288Pro
NM_001085425.2:c.862A>C VV NP_001078894.2:p.Thr288Pro
NM_001085426.2:c.862A>C VV NP_001078895.2:p.Thr288Pro
NM_001085427.2:c.862A>C VV NP_001078896.2:p.Thr288Pro
NM_001085428.2:c.604A>C VV NP_001078897.1:p.Thr202Pro
XM_011530690.1:c.604A>C XP_011528992.1:p.Thr202Pro
XM_011530691.1:c.862A>C XP_011528993.1:p.Thr288Pro
NM_001362782.1:c.604A>C VV NP_001349711.1:p.Thr202Pro
XM_011530691.3:c.862A>C XP_011528993.1:p.Thr288Pro
XM_017028800.1:c.862A>C XP_016884289.1:p.Thr288Pro
XM_024452241.1:c.862A>C XP_024308009.1:p.Thr288Pro
NM_000487.6:c.862A>C VV MANE Preferred NP_000478.3:p.Thr288Pro
NM_001085425.3:c.862A>C VV NP_001078894.2:p.Thr288Pro
NM_001085426.3:c.862A>C VV NP_001078895.2:p.Thr288Pro
NM_001085427.3:c.862A>C VV NP_001078896.2:p.Thr288Pro
NM_001085428.3:c.604A>C VV NP_001078897.1:p.Thr202Pro
NM_001362782.2:c.604A>C VV NP_001349711.1:p.Thr202Pro
ENST00000216124.9:c.862A>C ENSP00000216124.5:p.Thr288Pro
ENST00000356098.9:c.862A>C ENSP00000348406.5:p.Thr288Pro
ENST00000395619.3:c.862A>C ENSP00000378981.3:p.Thr288Pro
ENST00000395621.7:c.862A>C ENSP00000378983.3:p.Thr288Pro
ENST00000453344.6:c.604A>C ENSP00000412542.2:p.Thr202Pro