LDH info

Canonical Allele Identifier: CA122647
Gene: TPMT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12726
ClinVar RCV Id: RCV000013563
dbSNP Id: rs56161402

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130762C>T , CM000668.2:g.18130762C>T GRCh38
NC_000006.11:g.18130993C>T , CM000668.1:g.18130993C>T GRCh37
NC_000006.10:g.18238972C>T NCBI36
NG_012137.2:g.29382G>A

Transcript Alleles

HGVS Amino-acid change
NM_000367.3:c.644G>A VV NP_000358.1:p.Arg215His
XM_011514839.1:c.599G>A XP_011513141.1:p.Arg200His
XM_011514840.1:c.575G>A XP_011513142.1:p.Arg192His
NM_000367.4:c.644G>A VV NP_000358.1:p.Arg215His
NM_001346817.1:c.644G>A VV NP_001333746.1:p.Arg215His
NM_001346818.1:c.599G>A VV NP_001333747.1:p.Arg200His
ENST00000309983.4:c.644G>A ENSP00000312304.4:p.Arg215His