LDH info

Canonical Allele Identifier: CA339964
Gene: PYGM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2313
ClinVar RCV Id: RCV000002403
dbSNP Id: rs119103259

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751597C>T , CM000673.2:g.64751597C>T GRCh38
NC_000011.9:g.64519069C>T , CM000673.1:g.64519069C>T GRCh37
NC_000011.8:g.64275645C>T NCBI36
NG_013018.1:g.14119G>A

Transcript Alleles

HGVS Amino-acid change
NM_001164716.1:c.1563G>A VV NP_001158188.1:p.Lys521=
NM_005609.2:c.1827G>A VV NP_005600.1:p.Lys609=
NM_005609.3:c.1827G>A VV NP_005600.1:p.Lys609=
NM_005609.4:c.1827G>A VV MANE Preferred NP_005600.1:p.Lys609=
ENST00000164139.3:c.1827G>A ENSP00000164139.3:p.Lys609=
ENST00000377432.7:c.1563G>A ENSP00000366650.3:p.Lys521=
ENST00000462303.1:n.151G>A