LDH info

Canonical Allele Identifier: CA323817
Gene: HARS2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 214543
dbSNP Id: rs140540222

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140695556C>T , CM000667.2:g.140695556C>T GRCh38
NC_000005.9:g.140075141C>T , CM000667.1:g.140075141C>T GRCh37
NC_000005.8:g.140055325C>T NCBI36
NG_021415.1:g.9124C>T
NG_032158.1:g.831G>A

Transcript Alleles

HGVS Amino-acid change
NM_001278731.1:c.373C>T VV NP_001265660.1:p.Arg125Cys
NM_001278732.1:c.94-182C>T VV NP_001265661.1:p.=
NM_012208.3:c.448C>T VV NP_036340.1:p.Arg150Cys
XM_011537619.1:c.466C>T XP_011535921.1:p.Arg156Cys
XM_011537620.1:c.466C>T XP_011535922.1:p.Arg156Cys
NM_001363535.1:c.466C>T VV NP_001350464.1:p.Arg156Cys
NM_001363536.1:c.238C>T VV NP_001350465.1:p.Arg80Cys
XM_017009288.1:c.238C>T XP_016864777.1:p.Arg80Cys
XM_017009289.1:c.238C>T XP_016864778.1:p.Arg80Cys
XM_017009290.2:c.-287C>T XP_016864779.1:p.=
XM_017009291.1:c.-287C>T XP_016864780.1:p.=
XM_017009292.1:c.-287C>T XP_016864781.1:p.=
NM_012208.4:c.448C>T VV MANE Preferred NP_036340.1:p.Arg150Cys
ENST00000230771.7:c.448C>T ENSP00000230771.3:p.Arg150Cys
ENST00000448069.2:c.109-182C>T ENSP00000407105.2:p.=
ENST00000502303.5:n.531C>T
ENST00000508522.5:c.373C>T ENSP00000423616.1:p.Arg125Cys
ENST00000509299.5:c.466C>T ENSP00000425695.1:p.Arg156Cys
ENST00000510104.5:c.*248C>T ENSP00000423530.1:p.=
ENST00000513688.1:n.455C>T
ENST00000520095.5:c.*104-182C>T ENSP00000429220.1:p.=