LDH info

Canonical Allele Identifier: CA013042
Gene: MYBPC3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8615
ClinVar RCV Id: RCV000009146
dbSNP Id: rs121909376

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47335104T>G , CM000673.2:g.47335104T>G GRCh38
NC_000011.9:g.47356655T>G , CM000673.1:g.47356655T>G GRCh37
NC_000011.8:g.47313231T>G NCBI36
NG_007667.1:g.22599A>C , LRG_386:g.22599A>C

Transcript Alleles

HGVS Amino-acid change
NM_000256.3:c.2843A>C , LRG_386t1:c.2843A>C NP_000247.2:p.Asn948Thr
XM_011520117.1:c.2825A>C XP_011518419.1:p.Asn942Thr
XM_011520118.1:c.2762A>C XP_011518420.1:p.Asn921Thr
ENST00000256993.8:c.2843A>C ENSP00000256993.5:p.Asn948Thr
ENST00000399249.6:c.2843A>C ENSP00000382193.2:p.Asn948Thr
ENST00000545968.5:c.2843A>C ENSP00000442795.1:p.Asn948Thr