LDH info

Canonical Allele Identifier: CA3186374
Gene: SLC6A3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 522347
ClinVar RCV Id: RCV000625456
dbSNP Id: rs460000

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1432710G>T , CM000667.2:g.1432710G>T GRCh38
NC_000005.9:g.1432825G>T , CM000667.1:g.1432825G>T GRCh37
NC_000005.8:g.1485825G>T NCBI36
NG_015885.1:g.17719C>A

Transcript Alleles

HGVS Amino-acid change
NM_001044.4:c.419-12C>A VV NP_001035.1:p.=
NM_001044.5:c.419-12C>A VV MANE Preferred NP_001035.1:p.=
ENST00000270349.11:c.419-12C>A ENSP00000270349.9:p.=