LDH info

Canonical Allele Identifier: CA170998
Gene: MTRR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 138291
dbSNP Id: rs162036

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7885846A>G , CM000667.2:g.7885846A>G GRCh38
NC_000005.9:g.7885959A>G , CM000667.1:g.7885959A>G GRCh37
NC_000005.8:g.7938959A>G NCBI36
NG_008856.1:g.21743A>G

Transcript Alleles

HGVS Amino-acid change
NM_002454.2:c.1049A>G VV NP_002445.2:p.Lys350Arg
NM_024010.2:c.1130A>G VV NP_076915.2:p.Lys377Arg
XM_006714474.2:c.1130A>G XP_006714537.1:p.Lys377Arg
XM_011514043.1:c.1130A>G XP_011512345.1:p.Lys377Arg
XM_011514044.1:c.1049A>G XP_011512346.1:p.Lys350Arg
XR_241702.1:n.1152A>G
XR_241703.1:n.1145A>G
XR_925614.1:n.1152A>G
XR_925615.1:n.1152A>G
NM_001364440.1:c.1049A>G VV NP_001351369.1:p.Lys350Arg
NM_001364441.1:c.1049A>G VV NP_001351370.1:p.Lys350Arg
NM_001364442.1:c.1049A>G VV NP_001351371.1:p.Lys350Arg
NM_024010.3:c.1049A>G VV NP_076915.3:p.Lys350Arg
NR_134480.1:n.1172A>G
NR_134481.1:n.1186A>G
NR_134482.1:n.1032A>G
NR_157168.1:n.1102A>G
NR_157169.1:n.962A>G
NR_157170.1:n.1128A>G
NR_157171.1:n.962A>G
NR_157172.1:n.988A>G
NR_157173.1:n.1116A>G
NR_157174.1:n.988A>G
NR_157175.1:n.1142A>G
NR_157176.1:n.1282A>G
NR_157177.1:n.1137A>G
NR_157178.1:n.1142A>G
XM_024446063.1:c.1094A>G XP_024301831.1:p.Lys365Arg
XM_024446064.1:c.1049A>G XP_024301832.1:p.Lys350Arg
XR_001742071.1:n.1152A>G
XR_001742072.1:n.1152A>G
XR_001742074.1:n.1152A>G
XR_001742075.1:n.1152A>G
XR_001742076.1:n.1292A>G
XR_001742077.1:n.1292A>G
ENST00000264668.6:c.1130A>G ENSP00000264668.2:p.Lys377Arg
ENST00000440940.6:c.1049A>G ENSP00000402510.2:p.Lys350Arg
ENST00000508101.5:n.289A>G
ENST00000509961.5:n.62A>G
ENST00000510525.5:n.1074A>G
ENST00000511461.5:n.962A>G
ENST00000513439.5:c.*756A>G ENSP00000426710.1:p.=