LDH info

Canonical Allele Identifier: CA023802
Gene: LDLR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3683
dbSNP Id: rs121908024

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11100252C>T , CM000681.2:g.11100252C>T GRCh38
NC_000019.9:g.11210928C>T , CM000681.1:g.11210928C>T GRCh37
NC_000019.8:g.11071928C>T NCBI36
NG_009060.1:g.15872C>T , LRG_274:g.15872C>T

Transcript Alleles

HGVS Amino-acid change
NM_000527.4:c.97C>T , LRG_274t1:c.97C>T NP_000518.1:p.Gln33Ter
NM_001195798.1:c.97C>T VV NP_001182727.1:p.Gln33Ter
NM_001195799.1:c.97C>T VV NP_001182728.1:p.Gln33Ter
NM_001195800.1:c.97C>T VV NP_001182729.1:p.Gln33Ter
NM_001195803.1:c.97C>T VV NP_001182732.1:p.Gln33Ter
XM_011528010.1:c.97C>T XP_011526312.1:p.Gln33Ter
XM_011528011.1:c.97C>T XP_011526313.1:p.Gln33Ter
XR_244074.2:n.247C>T
XM_011528010.2:c.97C>T XP_011526312.1:p.Gln33Ter
XR_001753685.2:n.214C>T
XR_001753686.2:n.214C>T
ENST00000252444.9:n.351C>T
ENST00000455727.6:c.97C>T ENSP00000397829.2:p.Gln33Ter
ENST00000535915.5:c.97C>T ENSP00000440520.1:p.Gln33Ter
ENST00000545707.5:c.97C>T ENSP00000437639.1:p.Gln33Ter
ENST00000557933.5:c.97C>T ENSP00000453557.1:p.Gln33Ter
ENST00000557958.1:n.183C>T
ENST00000558013.5:c.97C>T ENSP00000453346.1:p.Gln33Ter
ENST00000558518.5:c.97C>T ENSP00000454071.1:p.Gln33Ter
ENST00000560502.5:n.183C>T