LDH info

Canonical Allele Identifier: CA16042007
Gene: CBS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370129
ClinVar RCV Id: RCV000411421
dbSNP Id: rs1057516256
MyVariant Identifiers: chr21:g.43068508C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43068508C>T , CM000683.2:g.43068508C>T GRCh38
NG_008938.1:g.12423G>A , LRG_777:g.12423G>A

Transcript Alleles

HGVS Amino-acid change
NM_000071.2:c.316+1G>A , LRG_777t1:c.316+1G>A NP_000062.1:p.=
NM_001178008.1:c.316+1G>A VV NP_001171479.1:p.=
NM_001178009.1:c.316+1G>A VV NP_001171480.1:p.=
XM_011529777.1:c.316+1G>A XP_011528079.1:p.=
XM_011529778.1:c.316+1G>A XP_011528080.1:p.=
XM_011529779.1:c.316+1G>A XP_011528081.1:p.=
XM_011529781.1:c.316+1G>A XP_011528083.1:p.=
XM_011529782.1:c.316+1G>A XP_011528084.1:p.=
NM_001178008.2:c.316+1G>A VV NP_001171479.1:p.=
NM_001178009.2:c.316+1G>A VV NP_001171480.1:p.=
NM_001320298.1:c.316+1G>A VV NP_001307227.1:p.=
XM_011529777.2:c.316+1G>A XP_011528079.1:p.=
XM_017028491.2:c.316+1G>A XP_016883980.1:p.=
XM_024452136.1:c.-452G>A XP_024307904.1:p.=
XM_024452137.1:c.-452G>A XP_024307905.1:p.=
XM_024452138.1:c.-730G>A XP_024307906.1:p.=
XM_024452139.1:c.-730G>A XP_024307907.1:p.=
XM_024452140.1:c.-730G>A XP_024307908.1:p.=
XR_001754916.2:n.466+1G>A
XR_001754917.2:n.466+1G>A
XR_002958634.1:n.466+1G>A
NM_000071.3:c.316+1G>A VV MANE Preferred NP_000062.1:p.=
NM_001178009.3:c.316+1G>A VV NP_001171480.1:p.=
ENST00000352178.9:c.316+1G>A ENSP00000344460.5:p.=
ENST00000359624.7:c.316+1G>A ENSP00000352643.3:p.=
ENST00000398158.5:c.316+1G>A ENSP00000381225.1:p.=
ENST00000398165.7:c.316+1G>A ENSP00000381231.3:p.=
ENST00000441030.5:c.316+1G>A ENSP00000388235.1:p.=
ENST00000465732.5:n.496G>A
ENST00000470912.5:n.576+1G>A
ENST00000488526.1:n.568G>A