LDH info

Canonical Allele Identifier: CA16042044
Gene: ARSA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370738
ClinVar RCV Id: RCV000410152
dbSNP Id: rs1057516730

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50627210G>A , CM000684.2:g.50627210G>A GRCh38
NC_000022.10:g.51065638G>A , CM000684.1:g.51065638G>A GRCh37
NC_000022.9:g.49412504G>A NCBI36
NG_009260.2:g.5970C>T

Transcript Alleles

HGVS Amino-acid change
NM_000487.5:c.421C>T VV NP_000478.3:p.Gln141Ter
NM_001085425.2:c.421C>T VV NP_001078894.2:p.Gln141Ter
NM_001085426.2:c.421C>T VV NP_001078895.2:p.Gln141Ter
NM_001085427.2:c.421C>T VV NP_001078896.2:p.Gln141Ter
NM_001085428.2:c.163C>T VV NP_001078897.1:p.Gln55Ter
XM_011530690.1:c.163C>T XP_011528992.1:p.Gln55Ter
XM_011530691.1:c.421C>T XP_011528993.1:p.Gln141Ter
NM_001362782.1:c.163C>T VV NP_001349711.1:p.Gln55Ter
XM_011530691.3:c.421C>T XP_011528993.1:p.Gln141Ter
XM_017028800.1:c.421C>T XP_016884289.1:p.Gln141Ter
XM_024452241.1:c.421C>T XP_024308009.1:p.Gln141Ter
NM_000487.6:c.421C>T VV MANE Preferred NP_000478.3:p.Gln141Ter
NM_001085425.3:c.421C>T VV NP_001078894.2:p.Gln141Ter
NM_001085426.3:c.421C>T VV NP_001078895.2:p.Gln141Ter
NM_001085427.3:c.421C>T VV NP_001078896.2:p.Gln141Ter
NM_001085428.3:c.163C>T VV NP_001078897.1:p.Gln55Ter
NM_001362782.2:c.163C>T VV NP_001349711.1:p.Gln55Ter
ENST00000216124.9:c.421C>T ENSP00000216124.5:p.Gln141Ter
ENST00000356098.9:c.421C>T ENSP00000348406.5:p.Gln141Ter
ENST00000395619.3:c.421C>T ENSP00000378981.3:p.Gln141Ter
ENST00000395621.7:c.421C>T ENSP00000378983.3:p.Gln141Ter
ENST00000453344.6:c.163C>T ENSP00000412542.2:p.Gln55Ter
ENST00000551731.1:n.812C>T