LDH info

Canonical Allele Identifier: CA341189
Gene: CYP21A2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12169
dbSNP Id: rs7755898

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040421C>T , CM000668.2:g.32040421C>T GRCh38
NC_000006.11:g.32008198C>T , CM000668.1:g.32008198C>T GRCh37
NC_000006.10:g.32116177C>T NCBI36
NG_007941.2:g.7114C>T
NG_008337.2:g.73954G>A
NG_007941.3:g.7117C>T

Transcript Alleles

HGVS Amino-acid change
NM_000500.7:c.955C>T VV NP_000491.4:p.Gln319Ter
NM_001128590.3:c.865C>T VV NP_001122062.3:p.Gln289Ter
XM_011514314.1:c.550C>T XP_011512616.1:p.Gln184Ter
NM_000500.9:c.955C>T VV NP_000491.4:p.Gln319Ter
ENST00000418967.6:c.955C>T ENSP00000408860.2:p.Gln319Ter
ENST00000435122.3:c.865C>T ENSP00000415043.2:p.Gln289Ter
ENST00000479074.5:n.1013C>T
ENST00000479730.5:n.1071C>T
ENST00000483041.5:n.1124C>T
ENST00000486063.5:n.934C>T