LDH info

Canonical Allele Identifier: CA278135
Gene: PCBD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 16795
ClinVar RCV Id: RCV000018286
dbSNP Id: rs104894172

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70884006C>A , CM000672.2:g.70884006C>A GRCh38
NC_000010.10:g.72643763C>A , CM000672.1:g.72643763C>A GRCh37
NC_000010.9:g.72313769C>A NCBI36
NG_008646.1:g.9779G>T

Transcript Alleles

HGVS Amino-acid change
NM_000281.3:c.259G>T VV NP_000272.1:p.Glu87Ter
NM_001289797.1:c.112G>T VV NP_001276726.1:p.Glu38Ter
XM_005269877.1:c.216+1146G>T XP_005269934.1:p.=
NM_001323004.1:c.216+1146G>T VV NP_001309933.1:p.=
NM_000281.4:c.259G>T VV MANE Preferred NP_000272.1:p.Glu87Ter
NM_001289797.2:c.112G>T VV NP_001276726.1:p.Glu38Ter
NM_001323004.2:c.216+1146G>T VV NP_001309933.1:p.=
ENST00000299299.3:c.259G>T ENSP00000299299.3:p.Glu87Ter
ENST00000493228.1:n.658G>T
ENST00000493961.5:n.183+1146G>T