LDH info

Canonical Allele Identifier: CA341179
Gene: CYP21A2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12150
dbSNP Id: rs6475

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039426T>A , CM000668.2:g.32039426T>A GRCh38
NC_000006.11:g.32007203T>A , CM000668.1:g.32007203T>A GRCh37
NC_000006.10:g.32115182T>A NCBI36
NG_007941.2:g.6119T>A
NG_008337.2:g.74949A>T
NG_007941.3:g.6122T>A

Transcript Alleles

HGVS Amino-acid change
NM_000500.7:c.518T>A VV NP_000491.4:p.Ile173Asn
NM_001128590.3:c.428T>A VV NP_001122062.3:p.Ile143Asn
XM_011514314.1:c.113T>A XP_011512616.1:p.Ile38Asn
NM_000500.9:c.518T>A VV NP_000491.4:p.Ile173Asn
ENST00000418967.6:c.518T>A ENSP00000408860.2:p.Ile173Asn
ENST00000435122.3:c.428T>A ENSP00000415043.2:p.Ile143Asn
ENST00000462278.1:n.106T>A
ENST00000464325.5:n.439T>A
ENST00000466779.5:c.*210T>A ENSP00000417321.1:p.=
ENST00000466879.5:n.569T>A
ENST00000469053.5:c.*210T>A ENSP00000418104.1:p.=
ENST00000471671.4:c.518T>A ENSP00000418561.1:p.Ile173Asn
ENST00000478281.5:c.551T>A ENSP00000419572.1:p.Ile184Asn
ENST00000479074.5:n.576T>A
ENST00000479730.5:n.673T>A
ENST00000483041.5:n.687T>A
ENST00000486063.5:n.698T>A
ENST00000488465.1:n.526T>A