LDH info

Canonical Allele Identifier: CA220291
Gene: ASL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 92362
dbSNP Id: rs398123126

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66086763C>T , CM000669.2:g.66086763C>T GRCh38
NC_000007.13:g.65551750C>T , CM000669.1:g.65551750C>T GRCh37
NC_000007.12:g.65189185C>T NCBI36
NG_009288.1:g.15975C>T

Transcript Alleles

HGVS Amino-acid change
NM_000048.3:c.544C>T VV NP_000039.2:p.Arg182Ter
NM_001024943.1:c.544C>T VV NP_001020114.1:p.Arg182Ter
NM_001024944.1:c.544C>T VV NP_001020115.1:p.Arg182Ter
NM_001024946.1:c.524+101C>T VV NP_001020117.1:p.=
ENST00000304874.13:c.544C>T ENSP00000307188.9:p.Arg182Ter
ENST00000362000.9:c.349C>T ENSP00000354710.5:p.Arg117Ter
ENST00000380839.8:c.524+101C>T ENSP00000370219.4:p.=
ENST00000395331.3:c.544C>T ENSP00000378740.3:p.Arg182Ter
ENST00000395332.7:c.544C>T ENSP00000378741.3:p.Arg182Ter
ENST00000487982.5:n.610C>T