LDH info

Canonical Allele Identifier: CA256771
Gene: POMC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13357
ClinVar RCV Id: RCV000014285
dbSNP Id: rs796065035

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25161482_25161483dup , CM000664.2:g.25161482_25161483dup GRCh38
NC_000002.11:g.25384351_25384352dup , CM000664.1:g.25384351_25384352dup GRCh37
NC_000002.10:g.25237855_25237856dup NCBI36
NG_008997.1:g.12209_12210dup

Transcript Alleles

HGVS Amino-acid change
NM_000939.2:c.403_404dup VV NP_000930.1:p.Lys136AlafsTer23
NM_001035256.1:c.403_404dup VV NP_001030333.1:p.Lys136AlafsTer23
XM_011532917.1:c.403_404dup XP_011531219.1:p.Lys136AlafsTer23
NM_000939.3:c.403_404dup VV NP_000930.1:p.Lys136AlafsTer23
NM_001035256.2:c.403_404dup VV NP_001030333.1:p.Lys136AlafsTer23
NM_001319204.1:c.403_404dup VV NP_001306133.1:p.Lys136AlafsTer23
NM_001319205.1:c.403_404dup VV NP_001306134.1:p.Lys136AlafsTer23
NM_000939.4:c.403_404dup VV MANE Preferred NP_000930.1:p.Lys136AlafsTer23
ENST00000264708.7:c.403_404dup ENSP00000264708.3:p.Lys136AlafsTer23
ENST00000380794.5:c.403_404dup ENSP00000370171.1:p.Lys136AlafsTer23
ENST00000395826.6:c.403_404dup ENSP00000379170.2:p.Lys136AlafsTer23
ENST00000405623.5:c.403_404dup ENSP00000384092.1:p.Lys136AlafsTer23
ENST00000449220.1:c.403_404dup ENSP00000387993.1:p.Lys136AlafsTer23