LDH info

Canonical Allele Identifier: CA312325
Gene: ASL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 203615
dbSNP Id: rs369879957

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66087380C>T , CM000669.2:g.66087380C>T GRCh38
NC_000007.13:g.65552367C>T , CM000669.1:g.65552367C>T GRCh37
NC_000007.12:g.65189802C>T NCBI36
NG_009288.1:g.16592C>T

Transcript Alleles

HGVS Amino-acid change
NM_000048.3:c.649C>T VV NP_000039.2:p.Arg217Ter
NM_001024943.1:c.649C>T VV NP_001020114.1:p.Arg217Ter
NM_001024944.1:c.649C>T VV NP_001020115.1:p.Arg217Ter
NM_001024946.1:c.571C>T VV NP_001020117.1:p.Arg191Ter
NM_000048.4:c.649C>T VV MANE Preferred NP_000039.2:p.Arg217Ter
NM_001024943.2:c.649C>T VV NP_001020114.1:p.Arg217Ter
NM_001024944.2:c.649C>T VV NP_001020115.1:p.Arg217Ter
NM_001024946.2:c.571C>T VV NP_001020117.1:p.Arg191Ter
ENST00000304874.13:c.649C>T ENSP00000307188.9:p.Arg217Ter
ENST00000362000.9:c.454C>T ENSP00000354710.5:p.Arg152Ter
ENST00000380839.8:c.571C>T ENSP00000370219.4:p.Arg191Ter
ENST00000395331.3:c.649C>T ENSP00000378740.3:p.Arg217Ter
ENST00000395332.7:c.649C>T ENSP00000378741.3:p.Arg217Ter