LDH info

Canonical Allele Identifier: CA10654935
Gene: MEFV HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 369971
ClinVar RCV Id: RCV000408827
dbSNP Id: rs1057516210

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3244283G>T , CM000678.2:g.3244283G>T GRCh38
NC_000016.9:g.3294283G>T , CM000678.1:g.3294283G>T GRCh37
NC_000016.8:g.3234284G>T NCBI36
NG_007871.1:g.17345C>A , LRG_190:g.17345C>A

Transcript Alleles

HGVS Amino-acid change
NM_000243.2:c.1730C>A , LRG_190t1:c.1730C>A NP_000234.1:p.Thr577Asn
NM_001198536.1:c.1097C>A VV NP_001185465.1:p.Thr366Asn
XM_017023236.2:c.1727C>A XP_016878725.1:p.Thr576Asn
XR_001751903.1:n.1919C>A
ENST00000219596.5:c.1730C>A ENSP00000219596.1:p.Thr577Asn
ENST00000339854.8:c.1190C>A ENSP00000339639.4:p.Thr397Asn
ENST00000536379.5:n.1097C>A ENSP00000445079.1:p.Thr366Asn
ENST00000536980.5:c.1097C>A ENSP00000444178.1:p.Thr366Asn
ENST00000537682.5:c.1730C>A ENSP00000438611.1:p.Thr577Asn
ENST00000538326.5:c.*355C>A ENSP00000437486.1:p.=
ENST00000539145.5:n.651C>A ENSP00000444471.1:p.=
ENST00000541159.5:n.1097C>A ENSP00000438711.1:p.Thr366Asn
ENST00000542898.5:c.1823C>A ENSP00000444615.1:p.Thr608Asn
ENST00000570511.5:n.1165-391C>A ENSP00000458312.1:p.=
ENST00000572244.5:n.420C>A ENSP00000461186.1:p.=
ENST00000574583.5:n.532-391C>A ENSP00000460269.1:p.=
ENST00000576315.5:n.535C>A ENSP00000460551.1:p.=
ENST00000621655.1:n.1097C>A ENSP00000481436.1:p.Thr366Asn