LDH info

Canonical Allele Identifier: CA6658150
Gene: CYP27B1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 279798
dbSNP Id: rs780950819

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763706_57763712dup , CM000674.2:g.57763706_57763712dup GRCh38
NC_000012.11:g.58157489_58157495dup , CM000674.1:g.58157489_58157495dup GRCh37
NC_000012.10:g.56443756_56443762dup NCBI36
NG_007076.1:g.8489_8495dup

Transcript Alleles

HGVS Amino-acid change
NM_000785.3:c.1319_1325dup VV NP_000776.1:p.Phe443ProfsTer24
NM_000785.4:c.1319_1325dup VV MANE Preferred NP_000776.1:p.Phe443ProfsTer24
ENST00000228606.8:c.1319_1325dup ENSP00000228606.4:p.Phe443ProfsTer24
ENST00000547344.5:n.1458_1464dup