LDH info

Canonical Allele Identifier: CA115129
Gene: CYP27B1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1663
ClinVar RCV Id: RCV000001730
dbSNP Id: rs387906259

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765109del , CM000674.2:g.57765109del GRCh38
NC_000012.11:g.58158892del , CM000674.1:g.58158892del GRCh37
NC_000012.10:g.56445159del NCBI36
NG_007076.1:g.7086del

Transcript Alleles

HGVS Amino-acid change
NM_000785.3:c.693del VV NP_000776.1:p.Thr232ArgfsTer3
NM_000785.4:c.693del VV MANE Preferred NP_000776.1:p.Thr232ArgfsTer3
ENST00000228606.8:c.693del ENSP00000228606.4:p.Thr232ArgfsTer3
ENST00000546567.5:c.-13del ENSP00000449472.1:p.=
ENST00000546609.1:n.605del
ENST00000547344.5:n.832del
ENST00000547451.1:n.493del