LDH info

Canonical Allele Identifier: CA010609
Gene: MYBPC3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 36602
dbSNP Id: rs181834806

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342658T>C , CM000673.2:g.47342658T>C GRCh38
NC_000011.9:g.47364209T>C , CM000673.1:g.47364209T>C GRCh37
NC_000011.8:g.47320785T>C NCBI36
NG_007667.1:g.15045A>G , LRG_386:g.15045A>G

Transcript Alleles

HGVS Amino-acid change
NM_000256.3:c.1544A>G , LRG_386t1:c.1544A>G NP_000247.2:p.Asn515Ser
XM_011520117.1:c.1526A>G XP_011518419.1:p.Asn509Ser
XM_011520118.1:c.1544A>G XP_011518420.1:p.Asn515Ser
ENST00000256993.8:c.1544A>G ENSP00000256993.5:p.Asn515Ser
ENST00000399249.6:c.1544A>G ENSP00000382193.2:p.Asn515Ser
ENST00000544791.1:c.1544A>G ENSP00000444259.1:p.Asn515Ser
ENST00000545968.5:c.1544A>G ENSP00000442795.1:p.Asn515Ser