LDH info

Canonical Allele Identifier: CA114072
Gene: CYB5R3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 240
ClinVar RCV Id: RCV000000264
dbSNP Id: rs121965010

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42623867G>A , CM000684.2:g.42623867G>A GRCh38
NC_000022.10:g.43019873G>A , CM000684.1:g.43019873G>A GRCh37
NC_000022.9:g.41349817G>A NCBI36
NG_012194.1:g.30533C>T

Transcript Alleles

HGVS Amino-acid change
NM_000398.6:c.655C>T VV NP_000389.1:p.Arg219Ter
NM_001129819.2:c.586C>T VV NP_001123291.1:p.Arg196Ter
NM_001171660.1:c.754C>T VV NP_001165131.1:p.Arg252Ter
NM_001171661.1:c.586C>T VV NP_001165132.1:p.Arg196Ter
NM_007326.4:c.586C>T VV NP_015565.1:p.Arg196Ter
NM_000398.7:c.655C>T VV MANE Preferred NP_000389.1:p.Arg219Ter
ENST00000352397.9:c.655C>T ENSP00000338461.6:p.Arg219Ter
ENST00000361740.8:n.754C>T ENSP00000354468.4:p.Arg252Ter
ENST00000402438.5:c.586C>T ENSP00000385679.1:p.Arg196Ter
ENST00000407332.5:c.586C>T ENSP00000384457.1:p.Arg196Ter
ENST00000407623.7:c.586C>T ENSP00000384834.3:p.Arg196Ter
ENST00000470741.1:n.2789C>T