LDH info

Canonical Allele Identifier: CA280099
Gene: MEFV HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2543
dbSNP Id: rs104895079

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3254567C>G , CM000678.2:g.3254567C>G GRCh38
NC_000016.9:g.3304567C>G , CM000678.1:g.3304567C>G GRCh37
NC_000016.8:g.3244568C>G NCBI36
NG_007871.1:g.7061G>C , LRG_190:g.7061G>C

Transcript Alleles

HGVS Amino-acid change
NM_000243.2:c.501G>C , LRG_190t1:c.501G>C NP_000234.1:p.Glu167Asp
NM_001198536.1:c.277+1744G>C VV NP_001185465.1:p.=
XM_017023236.2:c.501G>C XP_016878725.1:p.Glu167Asp
XR_001751903.1:n.690G>C
ENST00000219596.5:c.501G>C ENSP00000219596.1:p.Glu167Asp
ENST00000339854.8:c.277+1744G>C ENSP00000339639.4:p.=
ENST00000536379.5:n.277+1744G>C ENSP00000445079.1:p.=
ENST00000536980.5:c.277+1744G>C ENSP00000444178.1:p.=
ENST00000537682.5:c.501G>C ENSP00000438611.1:p.Glu167Asp
ENST00000538326.5:c.501G>C ENSP00000437486.1:p.Glu167Asp
ENST00000539145.5:n.277+1744G>C ENSP00000444471.1:p.=
ENST00000541159.5:n.277+1744G>C ENSP00000438711.1:p.=
ENST00000542898.5:c.501G>C ENSP00000444615.1:p.Glu167Asp
ENST00000570511.5:n.501G>C ENSP00000458312.1:p.Glu167Asp
ENST00000572244.5:n.277+1744G>C ENSP00000461186.1:p.=
ENST00000574583.5:n.277+1744G>C ENSP00000460269.1:p.=
ENST00000576315.5:n.277+1744G>C ENSP00000460551.1:p.=
ENST00000621655.1:n.277+1744G>C ENSP00000481436.1:p.=