LDH info

Canonical Allele Identifier: CA251486
Gene: LOXHD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 395
dbSNP Id: rs121918370

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46572125G>A , CM000680.2:g.46572125G>A GRCh38
NC_000018.9:g.44152088G>A , CM000680.1:g.44152088G>A GRCh37
NC_000018.8:g.42406086G>A NCBI36
NG_016646.1:g.89909C>T
NG_016646.2:g.89909C>T

Transcript Alleles

HGVS Amino-acid change
NM_144612.6:n.2008C>T VV NP_653213.6:p.Arg670Ter
XM_011525803.1:c.2008C>T XP_011524105.1:p.Arg670Ter
XM_011525804.1:c.169C>T XP_011524106.1:p.Arg57Ter
XM_011525804.2:c.169C>T XP_011524106.1:p.Arg57Ter
XM_017025548.1:c.2008C>T XP_016881037.1:p.Arg670Ter
XM_024451084.1:c.490C>T XP_024306852.1:p.Arg164Ter
ENST00000335730.6:n.1321C>T
ENST00000441551.6:n.2008C>T ENSP00000387621.2:p.Arg670Ter
ENST00000536736.5:n.2008C>T ENSP00000444586.1:p.Arg670Ter