LDH info

Canonical Allele Identifier: CA913234
Gene: ACADM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 226075
dbSNP Id: rs779759347

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75750482G>C , CM000663.2:g.75750482G>C GRCh38
NC_000001.10:g.76216167G>C , CM000663.1:g.76216167G>C GRCh37
NC_000001.9:g.75988755G>C NCBI36
NG_007045.2:g.31125G>C

Transcript Alleles

HGVS Amino-acid change
NM_000016.5:c.881G>C VV NP_000007.1:p.Arg294Thr
NM_001127328.2:c.893G>C VV NP_001120800.1:p.Arg298Thr
NM_001286042.1:c.773G>C VV NP_001272971.1:p.Arg258Thr
NM_001286043.1:c.980G>C VV NP_001272972.1:p.Arg327Thr
NM_001286044.1:c.314G>C VV NP_001272973.1:p.Arg105Thr
ENST00000370834.9:c.980G>C ENSP00000359871.5:p.Arg327Thr
ENST00000370841.8:c.881G>C ENSP00000359878.4:p.Arg294Thr
ENST00000420607.6:c.893G>C ENSP00000409612.2:p.Arg298Thr
ENST00000481374.1:n.32G>C
ENST00000525808.5:c.*467G>C ENSP00000434823.1:p.=
ENST00000526129.5:c.*665G>C ENSP00000434092.1:p.=
ENST00000526196.5:c.*649G>C ENSP00000431953.1:p.=
ENST00000528016.1:n.95G>C ENSP00000434284.1:p.Arg32Thr
ENST00000529059.5:n.790G>C
ENST00000532207.5:n.611G>C
ENST00000534334.5:c.*465G>C ENSP00000435584.1:p.=
ENST00000541113.5:c.773G>C ENSP00000442324.1:p.Arg258Thr