Canonical Allele Identifier: CA363504583

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039756-C-A
• MyVariant Identifiers: chr6:g.32007533C>A (hg19) ; chr6:g.32039756C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039756C>A , CM000668.2:g.32039756C>A	GRCh38
NC_000006.11:g.32007533C>A , CM000668.1:g.32007533C>A	GRCh37
NC_000006.10:g.32115512C>A	NCBI36
NG_007941.2:g.6449C>A
NG_008337.2:g.74619G>T
NG_007941.3:g.6452C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.659C>A MANE Select	ENSP00000496625.1:p.Pro220His
ENST00000418967.6:c.659C>A	ENSP00000408860.2:p.Pro220His
ENST00000435122.3:c.569C>A	ENSP00000415043.2:p.Pro190His
ENST00000462278.1:n.348C>A
ENST00000464325.5:n.580C>A
ENST00000466779.5:c.*351C>A	ENSP00000417321.1:n.*351C>A
ENST00000466879.5:n.710C>A
ENST00000479074.5:n.717C>A
ENST00000479730.5:n.775C>A
ENST00000483041.5:n.828C>A
ENST00000486063.5:n.839C>A
NM_000500.7:c.659C>A	NP_000491.4:p.Pro220His
NM_001128590.3:c.569C>A	NP_001122062.3:p.Pro190His
XM_011514314.1:c.254C>A	XP_011512616.1:p.Pro85His
NM_000500.9:c.659C>A MANE Select	NP_000491.4:p.Pro220His
NM_001368143.1:c.254C>A	NP_001355072.1:p.Pro85His
NM_001368144.1:c.254C>A	NP_001355073.1:p.Pro85His
NM_001128590.4:c.569C>A	NP_001122062.3:p.Pro190His
NM_001368143.2:c.254C>A	NP_001355072.1:p.Pro85His
NM_001368144.2:c.254C>A	NP_001355073.1:p.Pro85His