LDH info

Canonical Allele Identifier: CA146749
Gene: MAN2B1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 93218
dbSNP Id: rs1054487

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
NM_000528.3:c.935C>T VV NP_000519.2:p.Thr312Ile
NM_001173498.1:c.935C>T VV NP_001166969.1:p.Thr312Ile
XM_005259913.1:c.935C>T XP_005259970.1:p.Thr312Ile
XM_011528017.1:c.-84C>T XP_011526319.1:p.=
XM_005259913.2:c.935C>T XP_005259970.1:p.Thr312Ile
XM_024451518.1:c.-84C>T XP_024307286.1:p.=
NM_000528.4:c.935C>T VV MANE Preferred NP_000519.2:p.Thr312Ile
ENST00000221363.8:c.935C>T ENSP00000221363.4:p.Thr312Ile
ENST00000456935.6:c.935C>T ENSP00000395473.2:p.Thr312Ile
ENST00000462144.1:n.128C>T
ENST00000466794.5:n.917C>T