LDH info

Canonical Allele Identifier: CA256794
Gene: TTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13419
ClinVar RCV Id: RCV000014361
dbSNP Id: rs121918075

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31598632A>G , CM000680.2:g.31598632A>G GRCh38
NC_000018.9:g.29178595A>G , CM000680.1:g.29178595A>G GRCh37
NC_000018.8:g.27432593A>G NCBI36
NG_009490.1:g.11866A>G , LRG_416:g.11866A>G

Transcript Alleles

HGVS Amino-acid change
NM_000371.3:c.401A>G , LRG_416t1:c.401A>G NP_000362.1:p.Tyr134Cys
ENST00000237014.7:c.401A>G ENSP00000237014.3:p.Tyr134Cys
ENST00000610404.4:c.515A>G ENSP00000477599.1:p.Tyr172Cys
ENST00000613781.1:c.377A>G ENSP00000479174.1:p.Tyr126Cys