Canonical Allele Identifier: CA363501971

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007011C>A (hg19) ; chr6:g.32039234C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039234C>A , CM000668.2:g.32039234C>A	GRCh38
NC_000006.11:g.32007011C>A , CM000668.1:g.32007011C>A	GRCh37
NC_000006.10:g.32114990C>A	NCBI36
NG_007941.2:g.5927C>A
NG_008337.2:g.75141G>T
NG_007941.3:g.5930C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.433C>A MANE Select	ENSP00000496625.1:p.Gln145Lys
ENST00000418967.6:c.433C>A	ENSP00000408860.2:p.Gln145Lys
ENST00000435122.3:c.343C>A	ENSP00000415043.2:p.Gln115Lys
ENST00000462278.1:n.21C>A
ENST00000464325.5:n.354C>A
ENST00000466779.5:c.*125C>A	ENSP00000417321.1:n.*125C>A
ENST00000466879.5:n.484C>A
ENST00000469053.5:c.*125C>A	ENSP00000418104.1:n.*125C>A
ENST00000471671.4:c.433C>A	ENSP00000418561.1:p.Gln145Lys
ENST00000478281.5:c.466C>A	ENSP00000419572.1:p.Gln156Lys
ENST00000479074.5:n.491C>A
ENST00000479730.5:n.588C>A
ENST00000483041.5:n.602C>A
ENST00000486063.5:n.613C>A
ENST00000488465.1:n.441C>A
NM_000500.7:c.433C>A	NP_000491.4:p.Gln145Lys
NM_001128590.3:c.343C>A	NP_001122062.3:p.Gln115Lys
XM_011514314.1:c.28C>A	XP_011512616.1:p.Gln10Lys
NM_000500.9:c.433C>A MANE Select	NP_000491.4:p.Gln145Lys
NM_001368143.1:c.28C>A	NP_001355072.1:p.Gln10Lys
NM_001368144.1:c.28C>A	NP_001355073.1:p.Gln10Lys
NM_001128590.4:c.343C>A	NP_001122062.3:p.Gln115Lys
NM_001368143.2:c.28C>A	NP_001355072.1:p.Gln10Lys
NM_001368144.2:c.28C>A	NP_001355073.1:p.Gln10Lys