Canonical Allele Identifier: CA363503988

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1257294767
• gnomAD v2: 6-32007385-C-A
• gnomAD v4: 6-32039608-C-A
• MyVariant Identifiers: chr6:g.32007385C>A (hg19) ; chr6:g.32039608C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.612C>A MANE Select	ENSP00000496625.1:p.His204Gln
ENST00000418967.6:c.612C>A	ENSP00000408860.2:p.His204Gln
ENST00000435122.3:c.522C>A	ENSP00000415043.2:p.His174Gln
ENST00000462278.1:n.200C>A
ENST00000464325.5:n.533C>A
ENST00000466779.5:c.*304C>A	ENSP00000417321.1:n.*304C>A
ENST00000466879.5:n.663C>A
ENST00000469053.5:c.*304C>A	ENSP00000418104.1:n.*304C>A
ENST00000479074.5:n.670C>A
ENST00000479730.5:n.728C>A
ENST00000483041.5:n.781C>A
ENST00000486063.5:n.792C>A
NM_000500.7:c.612C>A	NP_000491.4:p.His204Gln
NM_001128590.3:c.522C>A	NP_001122062.3:p.His174Gln
XM_011514314.1:c.207C>A	XP_011512616.1:p.His69Gln
NM_000500.9:c.612C>A MANE Select	NP_000491.4:p.His204Gln
NM_001368143.1:c.207C>A	NP_001355072.1:p.His69Gln
NM_001368144.1:c.207C>A	NP_001355073.1:p.His69Gln
NM_001128590.4:c.522C>A	NP_001122062.3:p.His174Gln
NM_001368143.2:c.207C>A	NP_001355072.1:p.His69Gln
NM_001368144.2:c.207C>A	NP_001355073.1:p.His69Gln