LDH info

Canonical Allele Identifier: CA280110
Gene: MEFV HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2549
dbSNP Id: rs104895097

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3243205C>T , CM000678.2:g.3243205C>T GRCh38
NC_000016.9:g.3293205C>T , CM000678.1:g.3293205C>T GRCh37
NC_000016.8:g.3233206C>T NCBI36
NG_007871.1:g.18423G>A , LRG_190:g.18423G>A

Transcript Alleles

HGVS Amino-acid change
NM_000243.2:c.2282G>A , LRG_190t1:c.2282G>A NP_000234.1:p.Arg761His
NM_001198536.1:c.*486G>A VV NP_001185465.1:p.=
XM_017023236.2:c.2279G>A XP_016878725.1:p.Arg760His
ENST00000219596.5:c.2282G>A ENSP00000219596.1:p.Arg761His
ENST00000339854.8:c.1742G>A ENSP00000339639.4:p.Arg581His
ENST00000536379.5:n.1649G>A ENSP00000445079.1:p.Arg550His
ENST00000536980.5:c.*558G>A ENSP00000444178.1:p.=
ENST00000537682.5:c.*558G>A ENSP00000438611.1:p.=
ENST00000538326.5:c.*907G>A ENSP00000437486.1:p.=
ENST00000539145.5:n.1203G>A ENSP00000444471.1:p.=
ENST00000541159.5:n.1824G>A ENSP00000438711.1:p.=
ENST00000542898.5:c.*558G>A ENSP00000444615.1:p.=
ENST00000570511.5:n.1687G>A ENSP00000458312.1:p.=
ENST00000572244.5:n.972G>A ENSP00000461186.1:p.=
ENST00000574583.5:n.1054G>A ENSP00000460269.1:p.=
ENST00000576315.5:n.1087G>A ENSP00000460551.1:p.=
ENST00000621655.1:n.1819G>A ENSP00000481436.1:p.=