LDH info

Canonical Allele Identifier: CA275237
Gene: ACADM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 92261
dbSNP Id: rs398123074

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75732869T>C , CM000663.2:g.75732869T>C GRCh38
NC_000001.10:g.76198554T>C , CM000663.1:g.76198554T>C GRCh37
NC_000001.9:g.75971142T>C NCBI36
NG_007045.2:g.13512T>C

Transcript Alleles

HGVS Amino-acid change
NM_000016.5:c.233T>C VV NP_000007.1:p.Ile78Thr
NM_001127328.2:c.245T>C VV NP_001120800.1:p.Ile82Thr
NM_001286042.1:c.125T>C VV NP_001272971.1:p.Ile42Thr
NM_001286043.1:c.233T>C VV NP_001272972.1:p.Ile78Thr
NM_001286044.1:c.-153T>C VV NP_001272973.1:p.=
NM_000016.6:c.233T>C VV MANE Preferred NP_000007.1:p.Ile78Thr
ENST00000370834.9:c.233T>C ENSP00000359871.5:p.Ile78Thr
ENST00000370841.8:c.233T>C ENSP00000359878.4:p.Ile78Thr
ENST00000420607.6:c.245T>C ENSP00000409612.2:p.Ile82Thr
ENST00000473018.2:n.266T>C
ENST00000525808.5:c.*1T>C
ENST00000525881.5:n.242T>C
ENST00000526129.5:c.*17T>C ENSP00000434092.1:p.=
ENST00000526196.5:c.*1T>C
ENST00000529059.5:n.243T>C
ENST00000530953.6:c.118+4381T>C ENSP00000431372.1:p.=
ENST00000532509.5:c.135T>C ENSP00000432522.1:p.Asn45=
ENST00000534146.5:n.312T>C
ENST00000534334.5:c.233T>C ENSP00000435584.1:p.Ile78Thr
ENST00000541113.5:c.125T>C ENSP00000442324.1:p.Ile42Thr