LDH info

Canonical Allele Identifier: CA115136
Gene: CYP27B1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1674
ClinVar RCV Id: RCV000001741
dbSNP Id: rs118204012

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765320T>C , CM000674.2:g.57765320T>C GRCh38
NC_000012.11:g.58159103T>C , CM000674.1:g.58159103T>C GRCh37
NC_000012.10:g.56445370T>C NCBI36
NG_007076.1:g.6874A>G

Transcript Alleles

HGVS Amino-acid change
NM_000785.3:c.566A>G VV NP_000776.1:p.Glu189Gly
NM_000785.4:c.566A>G VV MANE Preferred NP_000776.1:p.Glu189Gly
ENST00000228606.8:c.566A>G ENSP00000228606.4:p.Glu189Gly
ENST00000546567.5:c.-140A>G ENSP00000449472.1:p.=
ENST00000546609.1:n.478A>G
ENST00000547344.5:n.620A>G
ENST00000547451.1:n.366A>G