LDH info

Canonical Allele Identifier: CA252262
Gene: ASL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2398
ClinVar RCV Id: RCV000002499
dbSNP Id: rs28940585

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66082443C>T , CM000669.2:g.66082443C>T GRCh38
NC_000007.13:g.65547430C>T , CM000669.1:g.65547430C>T GRCh37
NC_000007.12:g.65184865C>T NCBI36
NG_009288.1:g.11655C>T

Transcript Alleles

HGVS Amino-acid change
NM_000048.3:c.283C>T VV NP_000039.2:p.Arg95Cys
NM_001024943.1:c.283C>T VV NP_001020114.1:p.Arg95Cys
NM_001024944.1:c.283C>T VV NP_001020115.1:p.Arg95Cys
NM_001024946.1:c.283C>T VV NP_001020117.1:p.Arg95Cys
NM_000048.4:c.283C>T VV MANE Preferred NP_000039.2:p.Arg95Cys
NM_001024943.2:c.283C>T VV NP_001020114.1:p.Arg95Cys
NM_001024944.2:c.283C>T VV NP_001020115.1:p.Arg95Cys
NM_001024946.2:c.283C>T VV NP_001020117.1:p.Arg95Cys
ENST00000304874.13:c.283C>T ENSP00000307188.9:p.Arg95Cys
ENST00000362000.9:c.88C>T ENSP00000354710.5:p.Arg30Cys
ENST00000380839.8:c.283C>T ENSP00000370219.4:p.Arg95Cys
ENST00000395331.3:c.283C>T ENSP00000378740.3:p.Arg95Cys
ENST00000395332.7:c.283C>T ENSP00000378741.3:p.Arg95Cys
ENST00000487982.5:n.349C>T
ENST00000496336.1:n.524C>T