LDH info

Canonical Allele Identifier: CA152955
Gene: GCK HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 129145
dbSNP Id: rs587780346

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44149823T>G , CM000669.2:g.44149823T>G GRCh38
NC_000007.13:g.44189422T>G , CM000669.1:g.44189422T>G GRCh37
NC_000007.12:g.44155947T>G NCBI36
NG_008847.1:g.44601A>C
NG_008847.2:g.53348A>C

Transcript Alleles

HGVS Amino-acid change
NM_000162.3:c.616A>C VV NP_000153.1:p.Thr206Pro
NM_033507.1:c.619A>C VV NP_277042.1:p.Thr207Pro
NM_033508.1:c.613A>C VV NP_277043.1:p.Thr205Pro
NM_000162.4:c.616A>C VV NP_000153.1:p.Thr206Pro
NM_001354800.1:c.616A>C VV NP_001341729.1:p.Thr206Pro
NM_033507.2:c.619A>C VV NP_277042.1:p.Thr207Pro
NM_033508.2:c.613A>C VV NP_277043.1:p.Thr205Pro
NM_000162.5:c.616A>C VV MANE Preferred NP_000153.1:p.Thr206Pro
ENST00000345378.6:c.619A>C ENSP00000223366.2:p.Thr207Pro
ENST00000395796.7:c.613A>C ENSP00000379142.3:p.Thr205Pro
ENST00000403799.7:c.616A>C ENSP00000384247.3:p.Thr206Pro
ENST00000437084.1:c.565A>C ENSP00000402840.1:p.Thr189Pro
ENST00000616242.4:n.613A>C ENSP00000482149.1:p.Thr205Pro