LDH info

Canonical Allele Identifier: CA228715
Gene: VWF HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 31012
dbSNP Id: rs267607353

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6016197A>C , CM000674.2:g.6016197A>C GRCh38
NC_000012.11:g.6125363A>C , CM000674.1:g.6125363A>C GRCh37
NC_000012.10:g.5995624A>C NCBI36
NG_009072.1:g.113474T>G

Transcript Alleles

HGVS Amino-acid change
NM_000552.3:c.5347T>G VV NP_000543.2:p.Ser1783Ala
NM_000552.4:c.5347T>G VV NP_000543.2:p.Ser1783Ala
ENST00000261405.9:c.5347T>G ENSP00000261405.5:p.Ser1783Ala
ENST00000538635.5:n.421-22263T>G