LDH info

Canonical Allele Identifier: CA358449
Gene: TPMT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12723
ClinVar RCV Id: RCV000013560
dbSNP Id: rs1800584

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130781C>T , CM000668.2:g.18130781C>T GRCh38
NC_000006.11:g.18131012C>T , CM000668.1:g.18131012C>T GRCh37
NC_000006.10:g.18238991C>T NCBI36
NG_012137.2:g.29363G>A

Transcript Alleles

HGVS Amino-acid change
NM_000367.3:c.626-1G>A VV NP_000358.1:p.=
XM_011514839.1:c.581-1G>A XP_011513141.1:p.=
XM_011514840.1:c.557-1G>A XP_011513142.1:p.=
NM_000367.4:c.626-1G>A VV NP_000358.1:p.=
NM_001346817.1:c.626-1G>A VV NP_001333746.1:p.=
NM_001346818.1:c.581-1G>A VV NP_001333747.1:p.=
ENST00000309983.4:c.626-1G>A ENSP00000312304.4:p.=