LDH info

Canonical Allele Identifier: CA118015
Gene: BCS1L HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6169
dbSNP Id: rs121908576

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218661153C>T , CM000664.2:g.218661153C>T GRCh38
NC_000002.11:g.219525876C>T , CM000664.1:g.219525876C>T GRCh37
NC_000002.10:g.219234120C>T NCBI36
NG_008018.1:g.6498C>T , LRG_539:g.6498C>T
NG_033099.1:g.3388G>A

Transcript Alleles

HGVS Amino-acid change
NM_001079866.1:c.166C>T VV NP_001073335.1:p.Arg56Ter
NM_001257342.1:c.166C>T VV NP_001244271.1:p.Arg56Ter
NM_001257343.1:c.166C>T VV NP_001244272.1:p.Arg56Ter
NM_001257344.1:c.166C>T , LRG_539t2:c.166C>T NP_001244273.1:p.Arg56Ter
NM_004328.4:c.166C>T , LRG_539t1:c.166C>T NP_004319.1:p.Arg56Ter
XM_005246747.3:c.166C>T XP_005246804.1:p.Arg56Ter
XM_005246749.3:c.-41-606C>T XP_005246806.1:p.=
XM_006712678.1:c.166C>T XP_006712741.1:p.Arg56Ter
XM_011511587.1:c.166C>T XP_011509889.1:p.Arg56Ter
XM_011511588.1:c.-40-253C>T XP_011509890.1:p.=
XR_427105.1:n.1108C>T
NM_001318836.1:c.-40-253C>T VV NP_001305765.1:p.=
NM_001320717.1:c.166C>T VV NP_001307646.1:p.Arg56Ter
XM_005246748.3:c.-311C>T XP_005246805.1:p.=
XM_017004631.1:c.166C>T XP_016860120.1:p.Arg56Ter
XM_017004632.1:c.166C>T XP_016860121.1:p.Arg56Ter
XM_017004633.2:c.-311C>T XP_016860122.1:p.=
XM_017004634.2:c.-311C>T XP_016860123.1:p.=
XR_427105.3:n.1178C>T
ENST00000359273.7:c.166C>T ENSP00000352219.3:p.Arg56Ter
ENST00000392109.5:c.166C>T ENSP00000375957.1:p.Arg56Ter
ENST00000392110.6:c.166C>T ENSP00000375958.2:p.Arg56Ter
ENST00000392111.6:c.166C>T ENSP00000375959.2:p.Arg56Ter
ENST00000412366.5:c.166C>T ENSP00000406494.1:p.Arg56Ter
ENST00000423377.5:c.166C>T ENSP00000397293.1:p.Arg56Ter
ENST00000428880.5:c.166C>T ENSP00000391007.1:p.Arg56Ter
ENST00000430322.5:c.166C>T ENSP00000398957.1:p.Arg56Ter
ENST00000431802.5:c.166C>T ENSP00000413908.1:p.Arg56Ter
ENST00000439945.5:c.166C>T ENSP00000404999.1:p.Arg56Ter
ENST00000443791.5:c.-40-253C>T ENSP00000412729.1:p.=
ENST00000456050.5:c.166C>T ENSP00000395440.1:p.Arg56Ter
ENST00000471576.5:n.90C>T
ENST00000493376.1:n.287C>T