LDH info

Canonical Allele Identifier: CA3164011

Identifiers and link-outs to other resources

ClinVar Variation Id: 280137
dbSNP Id: rs375422404

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186286423C>T , CM000666.2:g.186286423C>T GRCh38
NC_000004.11:g.187207577C>T , CM000666.1:g.187207577C>T GRCh37
NC_000004.10:g.187444571C>T NCBI36
NG_008051.1:g.25460C>T , LRG_583:g.25460C>T

Transcript Alleles

HGVS Amino-acid change
NM_000128.3:c.1489C>T , LRG_583t1:c.1489C>T (F11) NP_000119.1:p.Arg497Ter
NR_033900.1:n.1067-157G>A (F11-AS1)
XM_005262821.2:c.1492C>T (F11) XP_005262878.1:p.Arg498Ter
XM_005262822.2:c.1483+610C>T (F11) XP_005262879.1:p.=
XM_005262823.2:c.1222C>T (F11) XP_005262880.1:p.Arg408Ter
XM_005262824.1:c.1484-123C>T (F11) XP_005262881.1:p.=
XM_006714137.1:c.1444C>T (F11) XP_006714200.1:p.Arg482Ter
XR_938706.1:n.1897C>T (F11)
XR_938707.1:n.1888+610C>T (F11)
XM_005262821.4:c.1492C>T (F11) XP_005262878.1:p.Arg498Ter
XM_005262822.4:c.1483+610C>T (F11) XP_005262879.1:p.=
XM_005262823.4:c.1222C>T (F11) XP_005262880.1:p.Arg408Ter
XM_006714137.3:c.1444C>T (F11) XP_006714200.1:p.Arg482Ter
XR_001741172.2:n.1963C>T (F11)
NM_000128.4:c.1489C>T (F11) VV NP_000119.1:p.Arg497Ter
ENST00000264691.4:n.176+610C>T
ENST00000264692.8:c.1327C>T ENSP00000264692.5:p.Arg443Ter
ENST00000403665.6:c.1489C>T ENSP00000384957.2:p.Arg497Ter