LDH info

Canonical Allele Identifier: CA16602319
Gene: LDLR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 375804
ClinVar RCV Id: RCV000417274
dbSNP Id: rs1057519666

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107515dup , CM000681.2:g.11107515dup GRCh38
NC_000019.9:g.11218191dup , CM000681.1:g.11218191dup GRCh37
NC_000019.8:g.11079191dup NCBI36
NG_009060.1:g.23135dup , LRG_274:g.23135dup

Transcript Alleles

HGVS Amino-acid change
NM_000527.4:c.940+1dup , LRG_274t1:c.940+1dup
NM_001195798.1:c.940+1dup VV
NM_001195799.1:c.817+1dup VV
NM_001195800.1:c.436+1dup VV
NM_001195803.1:c.559+1dup VV
XM_011528010.1:c.940+1dup
XM_011528011.1:c.559+1dup
XR_244074.2:n.1090+1dup
XM_011528010.2:c.940+1dup
XR_001753685.2:n.1057+1dup
XR_001753686.2:n.1057+1dup
NM_000527.5:c.940+1dup VV MANE Preferred
NM_001195798.2:c.940+1dup VV
NM_001195799.2:c.817+1dup VV
NM_001195800.2:c.436+1dup VV
NM_001195803.2:c.559+1dup VV
ENST00000252444.9:n.1194+1dup
ENST00000455727.6:c.436+1dup
ENST00000535915.5:c.817+1dup
ENST00000545707.5:c.559+1dup
ENST00000557933.5:c.940+1dup
ENST00000558013.5:c.940+1dup
ENST00000558518.5:c.940+1dup
ENST00000558528.1:n.456dup
ENST00000560467.1:n.540+1dup