Canonical Allele Identifier: CA363501128

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039160-A-G
• MyVariant Identifiers: chr6:g.32006937A>G (hg19) ; chr6:g.32039160A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039160A>G , CM000668.2:g.32039160A>G	GRCh38
NC_000006.11:g.32006937A>G , CM000668.1:g.32006937A>G	GRCh37
NC_000006.10:g.32114916A>G	NCBI36
NG_007941.2:g.5853A>G
NG_008337.2:g.75215T>C
NG_007941.3:g.5856A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.359A>G MANE Select	ENSP00000496625.1:p.His120Arg
ENST00000418967.6:c.359A>G	ENSP00000408860.2:p.His120Arg
ENST00000435122.3:c.269A>G	ENSP00000415043.2:p.His90Arg
ENST00000464325.5:n.280A>G
ENST00000466779.5:c.*51A>G	ENSP00000417321.1:n.*51A>G
ENST00000466879.5:n.410A>G
ENST00000469053.5:c.*51A>G	ENSP00000418104.1:n.*51A>G
ENST00000471671.4:c.359A>G	ENSP00000418561.1:p.His120Arg
ENST00000478281.5:c.392A>G	ENSP00000419572.1:p.His131Arg
ENST00000479074.5:n.417A>G
ENST00000479730.5:n.514A>G
ENST00000483041.5:n.528A>G
ENST00000486063.5:n.539A>G
ENST00000488465.1:n.367A>G
NM_000500.7:c.359A>G	NP_000491.4:p.His120Arg
NM_001128590.3:c.269A>G	NP_001122062.3:p.His90Arg
XM_011514314.1:c.-47A>G	XP_011512616.1:n.-47A>G
NM_000500.9:c.359A>G MANE Select	NP_000491.4:p.His120Arg
NM_001368143.1:c.-47A>G	NP_001355072.1:n.-47A>G
NM_001368144.1:c.-47A>G	NP_001355073.1:n.-47A>G
NM_001128590.4:c.269A>G	NP_001122062.3:p.His90Arg
NM_001368143.2:c.-47A>G	NP_001355072.1:n.-47A>G
NM_001368144.2:c.-47A>G	NP_001355073.1:n.-47A>G