LDH info

Canonical Allele Identifier: CA10636557
Gene: TBX3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 307329
ClinVar RCV Id: RCV000319833
dbSNP Id: rs1061651

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114670556T>C , CM000674.2:g.114670556T>C GRCh38
NC_000012.11:g.115108361T>C , CM000674.1:g.115108361T>C GRCh37
NC_000012.10:g.113592744T>C NCBI36
NG_008315.1:g.18609A>G

Transcript Alleles

HGVS Amino-acid change
NM_005996.3:c.*1285A>G VV NP_005987.3:p.=
NM_016569.3:c.*1285A>G VV NP_057653.3:p.=
NM_005996.4:c.*1285A>G VV MANE Preferred NP_005987.3:p.=
ENST00000257566.7:c.*1285A>G ENSP00000257566.3:p.=
ENST00000349155.6:c.*1285A>G ENSP00000257567.2:p.=