LDH info

Canonical Allele Identifier: CA312728
Gene: MMACHC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 203825
dbSNP Id: rs796051995

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45507491C>T , CM000663.2:g.45507491C>T GRCh38
NC_000001.10:g.45973163C>T , CM000663.1:g.45973163C>T GRCh37
NC_000001.9:g.45745750C>T NCBI36
NG_013378.1:g.12308C>T

Transcript Alleles

HGVS Amino-acid change
NM_015506.2:c.217C>T VV NP_056321.2:p.Arg73Ter
XM_005270724.3:c.82-721C>T XP_005270781.1:p.=
XM_011541204.1:c.46C>T XP_011539506.1:p.Arg16Ter
NM_001330540.1:c.46C>T VV NP_001317469.1:p.Arg16Ter
XM_005270724.5:c.82-721C>T XP_005270781.1:p.=
NM_015506.3:c.217C>T VV MANE Preferred NP_056321.2:p.Arg73Ter
NM_001330540.2:c.46C>T VV NP_001317469.1:p.Arg16Ter
ENST00000401061.8:c.217C>T ENSP00000383840.4:p.Arg73Ter
ENST00000616135.1:c.46C>T ENSP00000478859.1:p.Arg16Ter