LDH info

Canonical Allele Identifier: CA339980
Gene: ASL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2401
ClinVar RCV Id: RCV000002502
dbSNP Id: rs28940286

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66092566C>T , CM000669.2:g.66092566C>T GRCh38
NC_000007.13:g.65557553C>T , CM000669.1:g.65557553C>T GRCh37
NC_000007.12:g.65194988C>T NCBI36
NG_009288.1:g.21778C>T

Transcript Alleles

HGVS Amino-acid change
NM_000048.3:c.1153C>T VV NP_000039.2:p.Arg385Cys
NM_001024943.1:c.1153C>T VV NP_001020114.1:p.Arg385Cys
NM_001024944.1:c.1093C>T VV NP_001020115.1:p.Arg365Cys
NM_001024946.1:c.1075C>T VV NP_001020117.1:p.Arg359Cys
NM_000048.4:c.1153C>T VV MANE Preferred NP_000039.2:p.Arg385Cys
NM_001024943.2:c.1153C>T VV NP_001020114.1:p.Arg385Cys
NM_001024944.2:c.1093C>T VV NP_001020115.1:p.Arg365Cys
NM_001024946.2:c.1075C>T VV NP_001020117.1:p.Arg359Cys
ENST00000304874.13:c.1153C>T ENSP00000307188.9:p.Arg385Cys
ENST00000380839.8:c.1075C>T ENSP00000370219.4:p.Arg359Cys
ENST00000395331.3:c.1093C>T ENSP00000378740.3:p.Arg365Cys
ENST00000395332.7:c.1153C>T ENSP00000378741.3:p.Arg385Cys
ENST00000450043.2:n.466C>T ENSP00000396527.2:p.Arg156Cys
ENST00000464970.1:n.356C>T
ENST00000488343.1:n.148-338C>T
ENST00000493708.5:n.634C>T