LDH info

Canonical Allele Identifier: CA6959759
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 312180
ClinVar RCV Id: RCV000269816
dbSNP Id: rs374352017

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.40807393T>C , CM000675.2:g.40807393T>C GRCh38
NC_000013.10:g.41381529T>C , CM000675.1:g.41381529T>C GRCh37
NC_000013.9:g.40279529T>C NCBI36
NG_012248.1:g.22983T>C

Transcript Alleles

HGVS Amino-acid change
NM_014252.3:c.552T>C (SLC25A15) VV NP_055067.1:p.Tyr184=
NR_038258.1:n.623-6669A>G (TPTE2P5)
NR_038259.1:n.452-6669A>G (TPTE2P5)
NM_014252.4:c.552T>C (SLC25A15) VV NP_055067.1:p.Tyr184=
ENST00000338625.8:c.552T>C ENSP00000342267.4:p.Tyr184=
ENST00000470509.1:c.*235T>C ENSP00000431429.1:p.=
ENST00000478827.1:n.1039T>C