LDH info

Canonical Allele Identifier: CA3163918
Gene: F11 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 381729
dbSNP Id: rs533335580

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186284155C>T , CM000666.2:g.186284155C>T GRCh38
NC_000004.11:g.187205309C>T , CM000666.1:g.187205309C>T GRCh37
NC_000004.10:g.187442303C>T NCBI36
NG_008051.1:g.23192C>T , LRG_583:g.23192C>T

Transcript Alleles

HGVS Amino-acid change
NM_000128.3:c.1199C>T , LRG_583t1:c.1199C>T NP_000119.1:p.Pro400Leu
XM_005262821.2:c.1202C>T XP_005262878.1:p.Pro401Leu
XM_005262822.2:c.1202C>T XP_005262879.1:p.Pro401Leu
XM_005262823.2:c.932C>T XP_005262880.1:p.Pro311Leu
XM_005262824.1:c.1202C>T XP_005262881.1:p.Pro401Leu
XM_006714137.1:c.1154C>T XP_006714200.1:p.Pro385Leu
XR_938706.1:n.1607C>T
XR_938707.1:n.1607C>T
XM_005262821.4:c.1202C>T XP_005262878.1:p.Pro401Leu
XM_005262822.4:c.1202C>T XP_005262879.1:p.Pro401Leu
XM_005262823.4:c.932C>T XP_005262880.1:p.Pro311Leu
XM_006714137.3:c.1154C>T XP_006714200.1:p.Pro385Leu
XM_017007884.2:c.*2171C>T XP_016863373.1:p.=
XM_017007885.2:c.*67C>T XP_016863374.1:p.=
XR_001741172.2:n.1673C>T
NM_000128.4:c.1199C>T VV MANE Preferred NP_000119.1:p.Pro400Leu
ENST00000264692.8:c.1037C>T ENSP00000264692.5:p.Pro346Leu
ENST00000403665.6:c.1199C>T ENSP00000384957.2:p.Pro400Leu