LDH info

Canonical Allele Identifier: CA118389
Gene: COLQ HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6649
ClinVar RCV Id: RCV000007028
dbSNP Id: rs104893733

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15470613C>A , CM000665.2:g.15470613C>A GRCh38
NC_000003.11:g.15512120C>A , CM000665.1:g.15512120C>A GRCh37
NC_000003.10:g.15487124C>A NCBI36
NG_009032.1:g.56139G>T
NG_009032.2:g.56139G>T

Transcript Alleles

HGVS Amino-acid change
NM_005677.3:c.640G>T VV NP_005668.2:p.Glu214Ter
NM_080538.2:c.610G>T VV NP_536799.1:p.Glu204Ter
NM_080539.3:c.538G>T VV NP_536800.2:p.Glu180Ter
NM_005677.4:c.640G>T VV MANE Preferred NP_005668.2:p.Glu214Ter
NM_080539.4:c.538G>T VV NP_536800.2:p.Glu180Ter
ENST00000383781.8:c.610G>T ENSP00000373291.3:p.Glu204Ter
ENST00000383786.9:c.538G>T ENSP00000373296.3:p.Glu180Ter
ENST00000383788.9:c.640G>T ENSP00000373298.3:p.Glu214Ter
ENST00000603808.5:c.640G>T ENSP00000474271.1:p.Glu214Ter
ENST00000605797.1:n.469G>T ENSP00000474936.1:p.Glu157Ter