LDH info

Canonical Allele Identifier: CA275943
Gene: MMACHC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 203827
ClinVar RCV Id: RCV000190393
dbSNP Id: rs796051996

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45508355G>A , CM000663.2:g.45508355G>A GRCh38
NC_000001.10:g.45974027G>A , CM000663.1:g.45974027G>A GRCh37
NC_000001.9:g.45746614G>A NCBI36
NG_013378.1:g.13172G>A

Transcript Alleles

HGVS Amino-acid change
NM_015506.2:c.420G>A VV NP_056321.2:p.Trp140Ter
XM_005270724.3:c.225G>A XP_005270781.1:p.Trp75Ter
XM_011541204.1:c.249G>A XP_011539506.1:p.Trp83Ter
NM_001330540.1:c.249G>A VV NP_001317469.1:p.Trp83Ter
XM_005270724.5:c.225G>A XP_005270781.1:p.Trp75Ter
NM_015506.3:c.420G>A VV MANE Preferred NP_056321.2:p.Trp140Ter
NM_001330540.2:c.249G>A VV NP_001317469.1:p.Trp83Ter
ENST00000401061.8:c.420G>A ENSP00000383840.4:p.Trp140Ter
ENST00000616135.1:c.249G>A ENSP00000478859.1:p.Trp83Ter