Canonical Allele Identifier: CA449818710
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32039608-C-T
MyVariant Identifiers: chr6:g.32007385C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039608C>T , CM000668.2:g.32039608C>T GRCh38
NC_000006.11:g.32007385C>T , CM000668.1:g.32007385C>T GRCh37
NC_000006.10:g.32115364C>T NCBI36
NG_007941.2:g.6301C>T
NG_008337.2:g.74767G>A
NG_007941.3:g.6304C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.612C>T MANE Select ENSP00000496625.1:p.His204=
ENST00000418967.6:c.612C>T ENSP00000408860.2:p.His204=
ENST00000435122.3:c.522C>T ENSP00000415043.2:p.His174=
ENST00000462278.1:n.200C>T
ENST00000464325.5:n.533C>T
ENST00000466779.5:c.*304C>T ENSP00000417321.1:n.*304C>T
ENST00000466879.5:n.663C>T
ENST00000469053.5:c.*304C>T ENSP00000418104.1:n.*304C>T
ENST00000479074.5:n.670C>T
ENST00000479730.5:n.728C>T
ENST00000483041.5:n.781C>T
ENST00000486063.5:n.792C>T
NM_000500.7:c.612C>T NP_000491.4:p.His204=
NM_001128590.3:c.522C>T NP_001122062.3:p.His174=
XM_011514314.1:c.207C>T XP_011512616.1:p.His69=
NM_000500.9:c.612C>T MANE Select NP_000491.4:p.His204=
NM_001368143.1:c.207C>T NP_001355072.1:p.His69=
NM_001368144.1:c.207C>T NP_001355073.1:p.His69=
NM_001128590.4:c.522C>T NP_001122062.3:p.His174=
NM_001368143.2:c.207C>T NP_001355072.1:p.His69=
NM_001368144.2:c.207C>T NP_001355073.1:p.His69=