LDH info

Canonical Allele Identifier: CA411033555
Gene: MN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 812563
ClinVar RCV Id: RCV001003398

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27751043G>A , CM000684.2:g.27751043G>A GRCh38
NC_000022.10:g.28147031G>A , CM000684.1:g.28147031G>A GRCh37
NC_000022.9:g.26477031G>A NCBI36
NG_023258.1:g.55456C>T

Transcript Alleles

HGVS Amino-acid change
NM_002430.2:c.3835C>T VV NP_002421.3:p.Gln1279Ter
NM_002430.3:c.3835C>T VV MANE Preferred NP_002421.3:p.Gln1279Ter
ENST00000302326.4:c.3835C>T ENSP00000304956.4:p.Gln1279Ter
ENST00000424656.1:n.188C>T
ENST00000497225.1:n.191C>T