LDH info

Canonical Allele Identifier: CA118644
Gene: BLMH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7248
ClinVar RCV Id: RCV000007670
dbSNP Id: rs1050565

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30249058T>C , CM000679.2:g.30249058T>C GRCh38
NC_000017.10:g.28576076T>C , CM000679.1:g.28576076T>C GRCh37
NC_000017.9:g.25600202T>C NCBI36
NG_011440.1:g.47999A>G

Transcript Alleles

HGVS Amino-acid change
NM_000386.3:c.1327A>G VV NP_000377.1:p.Ile443Val
XR_934653.1:n.701-729T>C
XR_934655.1:n.701-3016T>C
NM_000386.4:c.1327A>G VV MANE Preferred NP_000377.1:p.Ile443Val
ENST00000261714.10:c.1327A>G ENSP00000261714.6:p.Ile443Val
ENST00000578090.5:c.*1001A>G ENSP00000462353.1:p.=
ENST00000578795.1:n.1226A>G