Canonical Allele Identifier: CA363502912

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039408T>G , CM000668.2:g.32039408T>G	GRCh38
NC_000006.11:g.32007185T>G , CM000668.1:g.32007185T>G	GRCh37
NC_000006.10:g.32115164T>G	NCBI36
NG_007941.2:g.6101T>G
NG_008337.2:g.74967A>C
NG_007941.3:g.6104T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000500.9:c.500T>G MANE Select	NP_000491.4:p.Leu167Arg
ENST00000644719.2:c.500T>G MANE Select	ENSP00000496625.1:p.Leu167Arg
NM_000500.7:c.500T>G	NP_000491.4:p.Leu167Arg
NM_001128590.3:c.410T>G	NP_001122062.3:p.Leu137Arg
NM_001128590.4:c.410T>G	NP_001122062.3:p.Leu137Arg
NM_001368143.1:c.95T>G	NP_001355072.1:p.Leu32Arg
NM_001368143.2:c.95T>G	NP_001355072.1:p.Leu32Arg
NM_001368144.1:c.95T>G	NP_001355073.1:p.Leu32Arg
NM_001368144.2:c.95T>G	NP_001355073.1:p.Leu32Arg
ENST00000418967.6:c.500T>G	ENSP00000408860.2:p.Leu167Arg
ENST00000435122.3:c.410T>G	ENSP00000415043.2:p.Leu137Arg
ENST00000462278.1:n.88T>G
ENST00000464325.5:n.421T>G
ENST00000466779.5:c.*192T>G	ENSP00000417321.1:n.*192T>G
ENST00000466879.5:n.551T>G
ENST00000469053.5:c.*192T>G	ENSP00000418104.1:n.*192T>G
ENST00000471671.4:c.500T>G	ENSP00000418561.1:p.Leu167Arg
ENST00000478281.5:c.533T>G	ENSP00000419572.1:p.Leu178Arg
ENST00000479074.5:n.558T>G
ENST00000479730.5:n.655T>G
ENST00000483041.5:n.669T>G
ENST00000486063.5:n.680T>G
ENST00000488465.1:n.508T>G
XM_011514314.1:c.95T>G	XP_011512616.1:p.Leu32Arg