LDH info

Canonical Allele Identifier: CA280093
Gene: MEFV HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2539
dbSNP Id: rs28940578

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3243405C>T , CM000678.2:g.3243405C>T GRCh38
NC_000016.9:g.3293405C>T , CM000678.1:g.3293405C>T GRCh37
NC_000016.8:g.3233406C>T NCBI36
NG_007871.1:g.18223G>A , LRG_190:g.18223G>A

Transcript Alleles

HGVS Amino-acid change
NM_000243.2:c.2082G>A , LRG_190t1:c.2082G>A NP_000234.1:p.Met694Ile
NM_001198536.1:c.*286G>A VV NP_001185465.1:p.=
XM_017023236.2:c.2079G>A XP_016878725.1:p.Met693Ile
ENST00000219596.5:c.2082G>A ENSP00000219596.1:p.Met694Ile
ENST00000339854.8:c.1542G>A ENSP00000339639.4:p.Met514Ile
ENST00000536379.5:n.1449G>A ENSP00000445079.1:p.Met483Ile
ENST00000536980.5:c.*358G>A ENSP00000444178.1:p.=
ENST00000537682.5:c.*358G>A ENSP00000438611.1:p.=
ENST00000538326.5:c.*707G>A ENSP00000437486.1:p.=
ENST00000539145.5:n.1003G>A ENSP00000444471.1:p.=
ENST00000541159.5:n.1624G>A ENSP00000438711.1:p.=
ENST00000542898.5:c.*358G>A ENSP00000444615.1:p.=
ENST00000570511.5:n.1487G>A ENSP00000458312.1:p.=
ENST00000572244.5:n.772G>A ENSP00000461186.1:p.=
ENST00000574583.5:n.854G>A ENSP00000460269.1:p.=
ENST00000576315.5:n.887G>A ENSP00000460551.1:p.=
ENST00000621655.1:n.1619G>A ENSP00000481436.1:p.=