Canonical Allele Identifier: CA363505005

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039791-G-A
• MyVariant Identifiers: chr6:g.32007568G>A (hg19) ; chr6:g.32039791G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039791G>A , CM000668.2:g.32039791G>A	GRCh38
NC_000006.11:g.32007568G>A , CM000668.1:g.32007568G>A	GRCh37
NC_000006.10:g.32115547G>A	NCBI36
NG_007941.2:g.6484G>A
NG_008337.2:g.74584C>T
NG_007941.3:g.6487G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.694G>A MANE Select	ENSP00000496625.1:p.Glu232Lys
ENST00000418967.6:c.694G>A	ENSP00000408860.2:p.Glu232Lys
ENST00000435122.3:c.604G>A	ENSP00000415043.2:p.Glu202Lys
ENST00000462278.1:n.383G>A
ENST00000466779.5:c.*386G>A	ENSP00000417321.1:n.*386G>A
ENST00000466879.5:n.745G>A
ENST00000479074.5:n.752G>A
ENST00000479730.5:n.810G>A
ENST00000483041.5:n.863G>A
ENST00000486063.5:n.874G>A
NM_000500.7:c.694G>A	NP_000491.4:p.Glu232Lys
NM_001128590.3:c.604G>A	NP_001122062.3:p.Glu202Lys
XM_011514314.1:c.289G>A	XP_011512616.1:p.Glu97Lys
NM_000500.9:c.694G>A MANE Select	NP_000491.4:p.Glu232Lys
NM_001368143.1:c.289G>A	NP_001355072.1:p.Glu97Lys
NM_001368144.1:c.289G>A	NP_001355073.1:p.Glu97Lys
NM_001128590.4:c.604G>A	NP_001122062.3:p.Glu202Lys
NM_001368143.2:c.289G>A	NP_001355072.1:p.Glu97Lys
NM_001368144.2:c.289G>A	NP_001355073.1:p.Glu97Lys