LDH info

Canonical Allele Identifier: CA252826
Gene: ACADM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3589
ClinVar RCV Id: RCV000003772
dbSNP Id: rs121434275

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75761300T>C , CM000663.2:g.75761300T>C GRCh38
NC_000001.10:g.76226985T>C , CM000663.1:g.76226985T>C GRCh37
NC_000001.9:g.75999573T>C NCBI36
NG_007045.2:g.41943T>C

Transcript Alleles

HGVS Amino-acid change
NM_000016.5:c.1124T>C VV NP_000007.1:p.Ile375Thr
NM_001127328.2:c.1136T>C VV NP_001120800.1:p.Ile379Thr
NM_001286042.1:c.1016T>C VV NP_001272971.1:p.Ile339Thr
NM_001286043.1:c.1223T>C VV NP_001272972.1:p.Ile408Thr
NM_001286044.1:c.557T>C VV NP_001272973.1:p.Ile186Thr
NM_000016.6:c.1124T>C VV MANE Preferred NP_000007.1:p.Ile375Thr
ENST00000370834.9:c.1223T>C ENSP00000359871.5:p.Ile408Thr
ENST00000370841.8:c.1124T>C ENSP00000359878.4:p.Ile375Thr
ENST00000420607.6:c.1136T>C ENSP00000409612.2:p.Ile379Thr
ENST00000481374.1:n.397T>C
ENST00000525808.5:c.*710T>C ENSP00000434823.1:p.=
ENST00000526129.5:c.*908T>C ENSP00000434092.1:p.=
ENST00000526196.5:c.*892T>C ENSP00000431953.1:p.=
ENST00000528016.1:n.160-7877T>C ENSP00000434284.1:p.=
ENST00000529059.5:n.1033T>C
ENST00000541113.5:c.1016T>C ENSP00000442324.1:p.Ile339Thr