LDH info

Canonical Allele Identifier: CA274268
Gene: ACADM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 189019
ClinVar RCV Id: RCV000169406
dbSNP Id: rs786204631

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75761153T>C , CM000663.2:g.75761153T>C GRCh38
NC_000001.10:g.76226838T>C , CM000663.1:g.76226838T>C GRCh37
NC_000001.9:g.75999426T>C NCBI36
NG_007045.2:g.41796T>C

Transcript Alleles

HGVS Amino-acid change
NM_000016.5:c.977T>C VV NP_000007.1:p.Met326Thr
NM_001127328.2:c.989T>C VV NP_001120800.1:p.Met330Thr
NM_001286042.1:c.869T>C VV NP_001272971.1:p.Met290Thr
NM_001286043.1:c.1076T>C VV NP_001272972.1:p.Met359Thr
NM_001286044.1:c.410T>C VV NP_001272973.1:p.Met137Thr
ENST00000370834.9:c.1076T>C ENSP00000359871.5:p.Met359Thr
ENST00000370841.8:c.977T>C ENSP00000359878.4:p.Met326Thr
ENST00000420607.6:c.989T>C ENSP00000409612.2:p.Met330Thr
ENST00000481374.1:n.250T>C
ENST00000525808.5:c.*563T>C ENSP00000434823.1:p.=
ENST00000526129.5:c.*761T>C ENSP00000434092.1:p.=
ENST00000526196.5:c.*745T>C ENSP00000431953.1:p.=
ENST00000528016.1:n.160-8024T>C ENSP00000434284.1:p.=
ENST00000529059.5:n.886T>C
ENST00000532207.5:n.707T>C
ENST00000534334.5:c.*718T>C ENSP00000435584.1:p.=
ENST00000541113.5:c.869T>C ENSP00000442324.1:p.Met290Thr