LDH info

Canonical Allele Identifier: CA10607693
Gene: HSD3B2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 292274
ClinVar RCV Id: RCV000335090
dbSNP Id: rs1819698

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422896C>T , CM000663.2:g.119422896C>T GRCh38
NC_000001.10:g.119965519C>T , CM000663.1:g.119965519C>T GRCh37
NC_000001.9:g.119767042C>T NCBI36
NG_013349.1:g.12966C>T

Transcript Alleles

HGVS Amino-acid change
NM_000198.3:c.*276C>T VV NP_000189.1:p.=
NM_001166120.1:c.*276C>T VV NP_001159592.1:p.=
NM_000198.4:c.*276C>T VV MANE Preferred NP_000189.1:p.=
ENST00000369416.3:c.*276C>T ENSP00000358424.3:p.=
ENST00000543831.5:c.*276C>T ENSP00000445122.1:p.=