LDH info

Canonical Allele Identifier: CA276955137
Gene: MEFV HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs28940577

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3243410T>C , CM000678.2:g.3243410T>C GRCh38
NC_000016.9:g.3293410T>C , CM000678.1:g.3293410T>C GRCh37
NC_000016.8:g.3233411T>C NCBI36
NG_007871.1:g.18218A>G , LRG_190:g.18218A>G

Transcript Alleles

HGVS Amino-acid change
NM_000243.2:c.2077A>G , LRG_190t1:c.2077A>G NP_000234.1:p.Met693Val
NM_001198536.1:c.*281A>G VV NP_001185465.1:p.=
XM_017023236.2:c.2074A>G XP_016878725.1:p.Met692Val
ENST00000219596.5:c.2077A>G ENSP00000219596.1:p.Met693Val
ENST00000339854.8:c.1537A>G ENSP00000339639.4:p.Met513Val
ENST00000536379.5:n.1444A>G ENSP00000445079.1:p.Met482Val
ENST00000536980.5:c.*353A>G ENSP00000444178.1:p.=
ENST00000537682.5:c.*353A>G ENSP00000438611.1:p.=
ENST00000538326.5:c.*702A>G ENSP00000437486.1:p.=
ENST00000539145.5:n.998A>G ENSP00000444471.1:p.=
ENST00000541159.5:n.1619A>G ENSP00000438711.1:p.=
ENST00000542898.5:c.*353A>G ENSP00000444615.1:p.=
ENST00000570511.5:n.1482A>G ENSP00000458312.1:p.=
ENST00000572244.5:n.767A>G ENSP00000461186.1:p.=
ENST00000574583.5:n.849A>G ENSP00000460269.1:p.=
ENST00000576315.5:n.882A>G ENSP00000460551.1:p.=
ENST00000621655.1:n.1614A>G ENSP00000481436.1:p.=