LDH info

Canonical Allele Identifier: CA220186
Gene: ACADM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3598
dbSNP Id: rs121434281

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75749444C>T , CM000663.2:g.75749444C>T GRCh38
NC_000001.10:g.76215129C>T , CM000663.1:g.76215129C>T GRCh37
NC_000001.9:g.75987717C>T NCBI36
NG_007045.2:g.30087C>T

Transcript Alleles

HGVS Amino-acid change
NM_000016.5:c.734C>T VV NP_000007.1:p.Ser245Leu
NM_001127328.2:c.746C>T VV NP_001120800.1:p.Ser249Leu
NM_001286042.1:c.626C>T VV NP_001272971.1:p.Ser209Leu
NM_001286043.1:c.833C>T VV NP_001272972.1:p.Ser278Leu
NM_001286044.1:c.167C>T VV NP_001272973.1:p.Ser56Leu
ENST00000370834.9:c.833C>T ENSP00000359871.5:p.Ser278Leu
ENST00000370841.8:c.734C>T ENSP00000359878.4:p.Ser245Leu
ENST00000420607.6:c.746C>T ENSP00000409612.2:p.Ser249Leu
ENST00000525808.5:c.*320C>T ENSP00000434823.1:p.=
ENST00000526129.5:c.*518C>T ENSP00000434092.1:p.=
ENST00000526196.5:c.*502C>T ENSP00000431953.1:p.=
ENST00000526930.1:n.507C>T
ENST00000529059.5:n.643C>T
ENST00000530953.6:c.*231C>T ENSP00000431372.1:p.=
ENST00000532207.5:n.464C>T
ENST00000532509.5:c.*498C>T ENSP00000432522.1:p.=
ENST00000534334.5:c.*318C>T ENSP00000435584.1:p.=
ENST00000541113.5:c.626C>T ENSP00000442324.1:p.Ser209Leu