LDH info

Canonical Allele Identifier: CA011151
Gene: MYBPC3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 180949
ClinVar RCV Id: RCV000158116
dbSNP Id: rs112179534

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341246T>G , CM000673.2:g.47341246T>G GRCh38
NC_000011.9:g.47362797T>G , CM000673.1:g.47362797T>G GRCh37
NC_000011.8:g.47319373T>G NCBI36
NG_007667.1:g.16457A>C , LRG_386:g.16457A>C

Transcript Alleles

HGVS Amino-acid change
NM_000256.3:c.1791-2A>C , LRG_386t1:c.1791-2A>C NP_000247.2:p.=
XM_011520117.1:c.1773-2A>C XP_011518419.1:p.=
XM_011520118.1:c.1791-2A>C XP_011518420.1:p.=
ENST00000256993.8:c.1791-2A>C ENSP00000256993.5:p.=
ENST00000399249.6:c.1791-2A>C ENSP00000382193.2:p.=
ENST00000544791.1:c.1791-2A>C ENSP00000444259.1:p.=
ENST00000545968.5:c.1791-2A>C ENSP00000442795.1:p.=