LDH info

Canonical Allele Identifier: CA16042747
Gene: MYBPC3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372678
ClinVar RCV Id: RCV000413236
dbSNP Id: rs1057517920

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342744C>T , CM000673.2:g.47342744C>T GRCh38
NC_000011.9:g.47364295C>T , CM000673.1:g.47364295C>T GRCh37
NC_000011.8:g.47320871C>T NCBI36
NG_007667.1:g.14959G>A , LRG_386:g.14959G>A

Transcript Alleles

HGVS Amino-acid change
NM_000256.3:c.1458G>A , LRG_386t1:c.1458G>A NP_000247.2:p.Trp486Ter
XM_011520117.1:c.1440G>A XP_011518419.1:p.Trp480Ter
XM_011520118.1:c.1458G>A XP_011518420.1:p.Trp486Ter
ENST00000256993.8:c.1458G>A ENSP00000256993.5:p.Trp486Ter
ENST00000399249.6:c.1458G>A ENSP00000382193.2:p.Trp486Ter
ENST00000544791.1:c.1458G>A ENSP00000444259.1:p.Trp486Ter
ENST00000545968.5:c.1458G>A ENSP00000442795.1:p.Trp486Ter