LDH info

Canonical Allele Identifier: CA9226650
Gene: MAN2B1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 235747
ClinVar RCV Id: RCV000224033
dbSNP Id: rs1054487

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12661351G>T , CM000681.2:g.12661351G>T GRCh38
NC_000019.9:g.12772165G>T , CM000681.1:g.12772165G>T GRCh37
NC_000019.8:g.12633165G>T NCBI36
NG_008318.1:g.10427C>A

Transcript Alleles

HGVS Amino-acid change
NM_000528.3:c.935C>A VV NP_000519.2:p.Thr312Asn
NM_001173498.1:c.935C>A VV NP_001166969.1:p.Thr312Asn
XM_005259913.1:c.935C>A XP_005259970.1:p.Thr312Asn
XM_011528017.1:c.-84C>A XP_011526319.1:p.=
XM_005259913.2:c.935C>A XP_005259970.1:p.Thr312Asn
XM_024451518.1:c.-84C>A XP_024307286.1:p.=
NM_000528.4:c.935C>A VV MANE Preferred NP_000519.2:p.Thr312Asn
NM_001173498.2:c.935C>A VV NP_001166969.1:p.Thr312Asn
ENST00000221363.8:c.935C>A ENSP00000221363.4:p.Thr312Asn
ENST00000456935.6:c.935C>A ENSP00000395473.2:p.Thr312Asn
ENST00000462144.1:n.128C>A
ENST00000466794.5:n.917C>A